ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2887G>A (p.Ala963Thr)

gnomAD frequency: 0.00001  dbSNP: rs1057523245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441257 SCV000531221 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001297196 SCV001486182 uncertain significance Familial hemiplegic migraine 2020-09-09 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. 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 not expected to disrupt ATP1A2 protein function. This variant has not been reported in the literature in individuals with ATP1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 388839). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 963 of the ATP1A2 protein (p.Ala963Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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