ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.424G>A (p.Val142Met)

dbSNP: rs786203212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574829 SCV000666451 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-15 criteria provided, single submitter clinical testing The p.V170M variant (also known as c.508G>A), located in coding exon 7 of the MUTYH gene, results from a G to A substitution at nucleotide position 508. The valine at codon 170 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000640369 SCV000761958 uncertain significance Familial adenomatous polyposis 2 2023-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 481787). 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 valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 170 of the MUTYH protein (p.Val170Met). 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 RCV000574829 SCV001348583 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-19 criteria provided, single submitter clinical testing This missense variant replaces valine with methionine at codon 170 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 not been identified 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.
Fulgent Genetics, Fulgent Genetics RCV002476226 SCV002776251 uncertain significance Familial adenomatous polyposis 2; Gastric cancer 2022-03-30 criteria provided, single submitter clinical testing

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