ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)

dbSNP: rs1002712424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672016 SCV000797070 uncertain significance Tay-Sachs disease 2018-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672016 SCV003484553 pathogenic Tay-Sachs disease 2022-11-29 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: 556070). This missense change has been observed in individual(s) with Tay-Sachs disease (PMID: 16088929). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 203 of the HEXA protein (p.Trp203Gly).

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