ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1446G>T (p.Arg482Ser)

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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 RCV002402970 SCV002708270 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-30 criteria provided, single submitter clinical testing The p.R510S variant (also known as c.1530G>T), located in coding exon 16 of the MUTYH gene, results from a G to T substitution at nucleotide position 1530. The arginine at codon 510 is replaced by serine, an amino acid with dissimilar 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.
Baylor Genetics RCV003464521 SCV004198952 uncertain significance Familial adenomatous polyposis 2 2023-05-17 criteria provided, single submitter clinical testing

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