ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.311T>C (p.Ile104Thr)

gnomAD frequency: 0.00001  dbSNP: rs760901258
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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 RCV001372566 SCV001569239 uncertain significance Familial hemiplegic migraine 2023-04-24 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. ClinVar contains an entry for this variant (Variation ID: 1062809). This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. This variant is present in population databases (rs760901258, gnomAD 0.004%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 104 of the ATP1A2 protein (p.Ile104Thr).
GeneDx RCV001762648 SCV001998687 uncertain significance not provided 2022-11-03 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

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