ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.534G>C (p.Glu178Asp)

dbSNP: rs1645149413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218449 SCV001390331 uncertain significance Familial adenomatous polyposis 2 2019-04-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MUTYH-related conditions. This sequence change replaces glutamic acid with aspartic acid at codon 206 of the MUTYH protein (p.Glu206Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Ambry Genetics RCV002356931 SCV002655031 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-14 criteria provided, single submitter clinical testing The p.E206D variant (also known as c.618G>C), located in coding exon 8 of the MUTYH gene, results from a G to C substitution at nucleotide position 618. The glutamic acid at codon 206 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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