ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1318G>T (p.Val440Leu)

gnomAD frequency: 0.00001  dbSNP: rs768088341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058814 SCV001223410 uncertain significance Familial hemiplegic migraine 2023-07-19 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ATP1A2 protein function. ClinVar contains an entry for this variant (Variation ID: 853901). This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. This variant is present in population databases (rs768088341, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 440 of the ATP1A2 protein (p.Val440Leu).
GeneDx RCV001836940 SCV002097558 uncertain significance not provided 2021-08-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001836940 SCV005074641 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing ATP1A2: PM2, PP3

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