ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) (rs775322979)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000334575 SCV000393836 uncertain significance Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000334575 SCV000795436 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000334575 SCV001416526 uncertain significance Tay-Sachs disease 2019-07-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 345 of the HEXA protein (p.Gly345Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs775322979, ExAC 0.002%). This variant has been observed in an individual with clinical features of ataxia (PMID: 29482223). ClinVar contains an entry for this variant (Variation ID: 317044). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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