ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr)

gnomAD frequency: 0.00001  dbSNP: rs121918617
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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 RCV002513024 SCV003523465 likely pathogenic Familial hemiplegic migraine 2021-12-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects ATP1A2 function (PMID: 17473835). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP1A2 protein function. ClinVar contains an entry for this variant (Variation ID: 12927). This missense change has been observed in individuals with ATP1A2-related conditions (PMID: 17473835; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 286 of the ATP1A2 protein (p.Ile286Thr).
OMIM RCV000013790 SCV000034037 pathogenic Migraine, familial hemiplegic, 2 2007-08-01 no assertion criteria provided literature only

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