ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs775322979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, 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 2022-02-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 345 of the HEXA protein (p.Gly345Ser). This variant is present in population databases (rs775322979, gnomAD 0.002%). This missense change has been observed in individual(s) 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Natera, Inc. RCV000334575 SCV002085686 uncertain significance Tay-Sachs disease 2019-01-02 no assertion criteria provided clinical testing

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