ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp)

dbSNP: rs1645363196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002269238 SCV002552526 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096091 SCV003521781 uncertain significance Familial adenomatous polyposis 2 2023-06-27 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: 1697954). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 95 of the MUTYH protein (p.Ala95Asp).
Revvity Omics, Revvity RCV003096091 SCV003817135 uncertain significance Familial adenomatous polyposis 2 2022-04-01 criteria provided, single submitter clinical testing

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