ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1129C>T (p.Pro377Ser)

dbSNP: rs121908382
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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 RCV001851673 SCV002117589 uncertain significance Familial adenomatous polyposis 2 2021-10-07 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. This variant disrupts the p.Pro405 amino acid residue in MUTYH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16140997, 16557584, 16616356, 19732775, 19836313, 25820570). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects MUTYH function (PMID: 25820570). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 5298). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 405 of the MUTYH protein (p.Pro405Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
OMIM RCV000005619 SCV000025801 pathogenic Gastric cancer 2004-09-02 no assertion criteria provided literature only

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