ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe)

dbSNP: rs1057521630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443567 SCV000523862 likely pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing The C341F variant in the ATP1A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C341F variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C341F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (V338A, L342P, T345A) have been reported in the Human Gene Mutation Database in association with hemiplegic migraine (Stenson et al., 2014), supporting the functional importance of this region of the protein. The C341F variant is a strong candidate for a pathogenic variant.
OMIM RCV001777162 SCV002014588 pathogenic Developmental and epileptic encephalopathy 98 2021-11-10 no assertion criteria provided literature only

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