ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1410C>G (p.Asp470Glu)

gnomAD frequency: 0.00002  dbSNP: rs533400580
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726376 SCV000344156 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000726376 SCV000515602 uncertain significance not provided 2025-02-13 criteria provided, single submitter clinical testing Reported previously as a maternally inherited variant of uncertain significance in a patient with physical findings of Ehlers-Danlos syndrome who also harbored variants in other genes (Wilson GN and Tonk VS. (2020) JBLS. https://doi.org/10.5296/jbls.v11i2.17756); In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18184292, Wilson2020[casereport])
Labcorp Genetics (formerly Invitae), Labcorp RCV001309620 SCV001499126 uncertain significance Familial hemiplegic migraine 2025-01-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 470 of the ATP1A2 protein (p.Asp470Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 289747). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ATP1A2 protein function with a negative predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV000726376 SCV001501927 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252086 SCV002523944 uncertain significance See cases 2021-03-31 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP2, BP4
Mayo Clinic Laboratories, Mayo Clinic RCV000726376 SCV005408325 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing PM2

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