ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.275A>C (p.Glu92Ala)

dbSNP: rs1570438557
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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 RCV001020682 SCV001182192 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing The p.E120A variant (also known as c.359A>C), located in coding exon 4 of the MUTYH gene, results from an A to C substitution at nucleotide position 359. The glutamic acid at codon 120 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is highly 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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