KCNH2 A913V

(KCNH2 Ala913Val)

See also: KCNH2 R913V

Reported by ClinVar to cause Long QT Syndrome (https://www.ncbi.nlm.nih.gov/clinvar/variation/14443/). In ClinVar, it is reported as “likely pathogenic” or “pathogenic” by submissions from Blueprint Genetics, Invitae, and OMIM, however it’s listed as “uncertain significance” by GeneDx.

These resources reference a couple of papers, including Kapplinger et al. 2009 (https://www.ncbi.nlm.nih.gov/pubmed/19716085), which found this variant in 5 out of 2500 patients tested.

Variant evidence
Computational		-

Functional

Case/Control		4

Familial		-


Clinical importance
Severity		4

Treatability		3

Penetrance		4

High clinical importance, Uncertain pathogenic

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

dominant

Allele frequency

None available.

Publications

Genomes

Other external references

GeneTests

GeneTests records for the KCNH2 gene
Romano-Ward Syndrome
Long QT Syndrome 2
Short QT Syndrome
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNH2

Other in silico analyses

NBLOSUM100 score = 2
GET-Evidence autoscore = 3

Edit history

Feb 22 2017 Madeleine Ball edited variant summary view
Feb 22 2017 Madeleine Ball edited variant summary view
Feb 22 2017 Madeleine Ball edited variant summary view
Feb 22 2017 Madeleine Ball added variant view

KCNH2 A913V - GET-Evidence