SACS N232K - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(SACS Asn232Lys)

Short summary


Variant evidence
Computational 1

PolyPhen-2 predicts SACS-N232K to be PROBABLY DAMAGING with a score of 1.000 (sensitivity: 0.00; specificity: 1.00).

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr13:23930055: 8.6% (928/10756) in EVS
  • T @ chr13:22828054: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 8.6% (928/10756)


Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P. Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c. PubMed PMID: 20876471.

This paper reports 18 new alleles among patients, including some with adult-onset forms of the disease.


hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr13:23930055


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr13:23930055


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr13:23930055


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr13:23930055


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr13:23930055


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr13:23930055


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr13:23930055


GS18537 - var-GS18537-1100-36-ASM
hom T @ chr13:22828055


show discussion


The OMIM entry on #270550 Spastic Ataxia, Charlevoix-Saguenay Type, cites a study reviewing the onset of this disease (PMID: 20876471). While there are late-onset forms, the existence of a homozygote for this allele among PGP participants suggests that this allele is benign, despite the PolyPhen-2 score. The high allele frequency among PGP participants also suggests that this allele is benign.

GS19669 - var-GS19669-1100-36-ASM
het T @ chr13:22828055


Other external references

  • rs2031640
  • Score: 0.98 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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