ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1730C>A (p.Thr577Lys)

dbSNP: rs747886840
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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 RCV001969792 SCV002222136 uncertain significance Familial hemiplegic migraine 2023-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 577 of the ATP1A2 protein (p.Thr577Lys). This variant is present in population databases (no rsID available, gnomAD 0.006%). ClinVar contains an entry for this variant (Variation ID: 1442146). 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. 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.
GeneDx RCV003320860 SCV004025750 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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