ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.370T>A (p.Trp124Arg)

dbSNP: rs1261588058
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689501 SCV000817155 uncertain significance Familial adenomatous polyposis 2 2024-09-15 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 152 of the MUTYH protein (p.Trp152Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 568983). 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 disruptive. 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 RCV001525310 SCV001735370 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-05 criteria provided, single submitter clinical testing This missense variant replaces tryptophan with arginine at codon 152 of the MUTYH protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251484 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001525310 SCV002640177 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-13 criteria provided, single submitter clinical testing The p.W152R variant (also known as c.454T>A), located in coding exon 5 of the MUTYH gene, results from a T to A substitution at nucleotide position 454. The tryptophan at codon 152 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000689501 SCV004198932 uncertain significance Familial adenomatous polyposis 2 2023-07-05 criteria provided, single submitter clinical testing

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