ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) (rs1555475519)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584891 SCV000692817 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001052312 SCV001216517 uncertain significance Tay-Sachs disease 2019-06-29 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 24 of the HEXA protein (p.Trp24Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 493161). 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: Possibly 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.
Natera, Inc. RCV001052312 SCV001461558 uncertain significance Tay-Sachs disease 2020-09-16 no assertion criteria provided clinical testing

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