ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.637T>C (p.Tyr213His)

dbSNP: rs1057519461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000416415 SCV002949936 pathogenic Tay-Sachs disease 2023-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 HEXA protein function. ClinVar contains an entry for this variant (Variation ID: 375355). This missense change has been observed in individual(s) with Tay-Sachs disease (PMID: 31388111). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 213 of the HEXA protein (p.Tyr213His).
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000416415 SCV000494213 likely pathogenic Tay-Sachs disease 2014-11-17 no assertion criteria provided research Variant was found to be pathogenic by online software Mutation Taster, SIFT and Plypehn2

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