ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1423G>A (p.Gly475Arg)

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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 RCV003182824 SCV003867828 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-11 criteria provided, single submitter clinical testing The p.G503R variant (also known as c.1507G>A), located in coding exon 15 of the MUTYH gene, results from a G to A substitution at nucleotide position 1507. The glycine at codon 503 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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