ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.44C>T (p.Thr15Met)

gnomAD frequency: 0.00004  dbSNP: rs371257019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430842 SCV000536235 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing 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 RCV001851094 SCV002277581 uncertain significance Familial hemiplegic migraine 2023-11-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 15 of the ATP1A2 protein (p.Thr15Met). This variant is present in population databases (rs371257019, gnomAD 0.02%). This missense change has been observed in individual(s) with ATP1A2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 392896). 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 with a negative predictive value of 95%. 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.

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