ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.579A>G (p.Ile193Met)

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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 RCV002620515 SCV003506254 uncertain significance Tay-Sachs disease, variant AB 2023-08-10 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2188813). This variant has not been reported in the literature in individuals affected with GM2A-related conditions. This variant is present in population databases (rs766986799, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 193 of the GM2A protein (p.Ile193Met).

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