ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val)

dbSNP: rs1057517460
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409877 SCV000487378 uncertain significance Familial adenomatous polyposis 2 2016-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571651 SCV000666476 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-14 criteria provided, single submitter clinical testing The p.A21V variant (also known as c.62C>T), located in coding exon 2 of the MUTYH gene, results from a C to T substitution at nucleotide position 62. The alanine at codon 21 is replaced by valine, an amino acid with similar properties. This alteration was reported (referred to as c.61C>T) in an individual from a cohort of APC negative individuals with more than 5 colorectal adenomas (Olschwang S et al. Genet. Test., 2007;11:315-20). This amino acid position is not well 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 RCV000409877 SCV000824270 uncertain significance Familial adenomatous polyposis 2 2023-05-05 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 371682). This missense change has been observed in individual(s) with adenomatous polyposis and/or colorectal cancer (PMID: 17949294, 31780696). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 21 of the MUTYH protein (p.Ala21Val).
Color Diagnostics, LLC DBA Color Health RCV000571651 SCV001340193 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-30 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 21 of the MUTYH protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual with multiple colorectal adenomas (PMID: 17949294). 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 RCV002505996 SCV002815166 uncertain significance Familial adenomatous polyposis 2; Gastric cancer 2021-10-31 criteria provided, single submitter clinical testing

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