ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.205C>G (p.Arg69Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004647003 SCV005144064 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-30 criteria provided, single submitter clinical testing The p.R97G variant (also known as c.289C>G), located in coding exon 3 of the MUTYH gene, results from a C to G substitution at nucleotide position 289. The arginine at codon 97 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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