ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2774T>C (p.Val925Ala)

dbSNP: rs1651973840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215070 SCV001386791 uncertain significance Familial hemiplegic migraine 2019-10-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ATP1A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 925 of the ATP1A2 protein (p.Val925Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
Ambry Genetics RCV002436824 SCV002747225 uncertain significance Inborn genetic diseases 2017-05-04 criteria provided, single submitter clinical testing The p.V925A variant (also known as c.2774T>C), located in coding exon 20 of the ATP1A2 gene, results from a T to C substitution at nucleotide position 2774. The valine at codon 925 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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