SLC26A8 R87Q - GET-Evidence

Curation:
Currentness:

SLC26A8 R87Q

(SLC26A8 Arg87Gln)


Short summary

Reported by ClinVar to cause spermatogenic failure and male infertility (https://www.ncbi.nlm.nih.gov/clinvar/variation/50909/). In ClinVar this variant is reported as “pathogenic” (causing this condition) by a single source, OMIM, which cites Dirami et al 2013 (https://www.ncbi.nlm.nih.gov/pubmed/23582645).

Dirami et al found this variant heterozygous in one of 146 patients screened with “moderate asthenozoospermia”. The authors also report molecular evidence that this variant disrupts coorporation between this gene product and the CFTR receptor (and their hypothesis is based on the consequences of CFTR variants, which can cause male infertility). This variant is moderately rare: according to ExAC it is carried by roughly 1 in 1400 individuals (http://exac.broadinstitute.org/variant/5-176048219-G-T).

The statistical significance of this report may be weak or absent. Although the authors reported weak statistical significance for enrichment relative to controls (p=0.0329), a replication of their chi-square calculation yields p=0.066, and a two-tailed Fisher’s Exact test produces p=0.18.

Variant evidence
Computational -
Functional -
Case/Control 2

Statistical significance may be weak or absent. Dirami et al report 0.0329, but this may be a miscalculation.

Familial
 
Clinical importance
Severity 3
Treatability 3
Penetrance 4
 

Impact

Moderate clinical importance, Uncertain pathogenic

(The "moderate clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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