ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.62C>T (p.Ala21Val) (rs1057517460)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409877 SCV000487378 uncertain significance MYH-associated polyposis 2016-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571651 SCV000666476 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-19 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.
Invitae RCV000409877 SCV000824270 uncertain significance MYH-associated polyposis 2019-07-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 21 of the MUTYH protein (p.Ala21Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with adenomatous polyposis and/or colorectal cancer (PMID: 17949294). ClinVar contains an entry for this variant (Variation ID: 371682). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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 Health, Inc RCV000571651 SCV001340193 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-27 criteria provided, single submitter clinical testing

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