ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.791G>T (p.Gly264Val) (rs1570404090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026955 SCV001189434 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-24 criteria provided, single submitter clinical testing The p.G264V variant (also known as c.791G>T), located in coding exon 10 of the MUTYH gene, results from a G to T substitution at nucleotide position 791. The glycine at codon 264 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is poorly 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356147 SCV001551225 uncertain significance not provided no assertion criteria provided clinical testing

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