Total submissions: 2
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, |
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 |