ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.251A>G (p.Tyr84Cys) (rs200747973)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131672 SCV000186704 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034675 SCV000043378 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000131672 SCV000685607 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing
Counsyl RCV000471221 SCV000794694 uncertain significance MYH-associated polyposis 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV000471221 SCV000545736 uncertain significance MYH-associated polyposis 2018-03-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 84 of the MUTYH protein (p.Tyr84Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 41758). 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, this variant has uncertain impact on MUTYH function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000471221 SCV000837784 uncertain significance MYH-associated polyposis 2018-07-02 criteria provided, single submitter clinical testing

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