ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.634A>G (p.Ile212Val) (rs200965879)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164430 SCV000215069 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-01 criteria provided, single submitter clinical testing The p.I226V variant (also known as c.676A>G), located in coding exon 8 of the MUTYH gene, results from an A to G substitution at nucleotide position 676. The isoleucine at codon 226 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Health, Inc RCV000164430 SCV000685655 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-29 criteria provided, single submitter clinical testing
Counsyl RCV000669978 SCV000794784 uncertain significance MYH-associated polyposis 2017-10-17 criteria provided, single submitter clinical testing
Invitae RCV000669978 SCV000935687 uncertain significance MYH-associated polyposis 2020-08-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 226 of the MUTYH protein (p.Ile226Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs200965879, ExAC 0.01%). This variant has not been reported in the literature in individuals with MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 185072). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GeneDx RCV001559546 SCV001781792 uncertain significance not provided 2019-09-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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