ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)

dbSNP: rs121907968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004123 SCV000798493 uncertain significance Tay-Sachs disease 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000004123 SCV000937643 uncertain significance Tay-Sachs disease 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 485 of the HEXA protein (p.Trp485Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Tay-Sachs disease (PMID: 1301190). ClinVar contains an entry for this variant (Variation ID: 3917). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects HEXA function (PMID: 1301190). 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.
OMIM RCV000004123 SCV000024289 affects Tay-Sachs disease 1992-01-01 no assertion criteria provided literature only

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