ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.908A>C (p.Glu303Ala)

dbSNP: rs1374712964
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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 RCV001019895 SCV001181307 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-27 criteria provided, single submitter clinical testing The p.E331A variant (also known as c.992A>C), located in coding exon 11 of the MUTYH gene, results from an A to C substitution at nucleotide position 992. The glutamic acid at codon 331 is replaced by alanine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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