ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.902T>G (p.Met301Arg) (rs121907977)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004139 SCV000957506 uncertain significance Tay-Sachs disease 2018-09-11 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 301 of the HEXA protein (p.Met301Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine. This variant is present in population databases (rs121907977, ExAC 0.02%). This variant has been reported as in combination with a pathogenic HEXA variant in an individual affected with Tay-Sachs disease (PMID: 8490625). ClinVar contains an entry for this variant (Variation ID: 3933). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.
Centogene AG - the Rare Disease Company RCV001250228 SCV001424436 pathogenic Tay-Sachs disease, variant AB; Tay-Sachs disease criteria provided, single submitter clinical testing
OMIM RCV000004139 SCV000024305 pathogenic Tay-Sachs disease 1993-01-01 no assertion criteria provided literature only

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