ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1349A>G (p.Gln450Arg)

dbSNP: rs774607582
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551676 SCV000639282 uncertain significance Familial adenomatous polyposis 2 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 478 of the MUTYH protein (p.Gln478Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with a history of Lynch syndrome-associated cancer and/or colorectal polyps (PMID: 25980754). ClinVar contains an entry for this variant (Variation ID: 464695). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Color Diagnostics, LLC DBA Color Health RCV000777223 SCV000912914 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777223 SCV001171888 likely benign Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV000551676 SCV005056081 uncertain significance Familial adenomatous polyposis 2 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005018933 SCV005652971 uncertain significance Familial adenomatous polyposis 2; Gastric cancer 2024-01-27 criteria provided, single submitter clinical testing

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