ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) (rs772180415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000207019 SCV000262575 pathogenic Tay-Sachs disease 2011-10-02 criteria provided, single submitter clinical testing This variant found to be pathogenic by online software including Mutation Taster, Polyphen2 and SIFT.
Counsyl RCV000207019 SCV000487232 likely pathogenic Tay-Sachs disease 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000207019 SCV001400896 pathogenic Tay-Sachs disease 2019-09-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 322 of the HEXA protein (p.Asp322Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs772180415, ExAC 0.02%). This variant has been observed to be homozygous in several individuals affected with Tay-Sachs disease (PMID: 22390110, 22723944, 23852624). ClinVar contains an entry for this variant (Variation ID: 221281). 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 C1). For these reasons, this variant has been classified as Pathogenic. 5

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