ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1007G>T (p.Arg336Leu)

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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 RCV002448069 SCV002735375 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-19 criteria provided, single submitter clinical testing The p.R364L variant (also known as c.1091G>T), located in coding exon 12 of the MUTYH gene, results from a G to T substitution at nucleotide position 1091. The arginine at codon 364 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well 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.
GeneDx RCV003222430 SCV003918372 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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