ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg)

gnomAD frequency: 0.00002  dbSNP: rs772431056
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046801 SCV002110695 uncertain significance Tay-Sachs disease 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 419 of the HEXA protein (p.Pro419Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs772431056, ExAC 0.03%). 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.

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