ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1049A>G (p.Glu350Gly)

dbSNP: rs1553126436
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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 RCV000567971 SCV000670165 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-24 criteria provided, single submitter clinical testing The p.E378G variant (also known as c.1133A>G), located in coding exon 12 of the MUTYH gene, results from an A to G substitution at nucleotide position 1133. The glutamic acid at codon 378 is replaced by glycine, an amino acid with similar 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.

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