ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) (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
Invitae RCV000004123 SCV000937643 uncertain significance Tay-Sachs disease 2018-10-31 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 variant has been observed in the homozygous state in an individual affected with Tay-Sachs disease (PMID: 1301190). ClinVar contains an entry for this variant (Variation ID: 3917). Experimental studies have shown that this missense change results in significantly decreased enzyme activity and protein expression compared to wild type (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 pathogenic Tay-Sachs disease 1992-01-01 no assertion criteria provided literature only

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