ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.3022C>T (p.Arg1008Trp)

dbSNP: rs2524899245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002510158 SCV002818999 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33578253, 30842972, 35751846, 31164858, 28811059)
Labcorp Genetics (formerly Invitae), Labcorp RCV002571580 SCV003460711 uncertain significance Familial hemiplegic migraine 2022-10-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1008 of the ATP1A2 protein (p.Arg1008Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of alternating hemiplegia and epilepsy (PMID: 28811059).

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