ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)

dbSNP: rs782583311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247057 SCV002518035 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003138125 SCV003807432 uncertain significance Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2022-04-12 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP2 supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV003626696 SCV004561695 uncertain significance Dystonia 12 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 517 of the ATP1A3 protein (p.Glu517Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP1A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1686544). 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 expected to disrupt ATP1A3 protein function with a positive 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.

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