ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002862103 SCV003223173 uncertain significance Tay-Sachs disease 2018-04-12 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 27 of the HEXA protein (p.Pro27Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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 disease. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004790254 SCV005411077 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing PP3, PM2_moderate

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