ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1243G>A (p.Val415Ile)

dbSNP: rs1570367534
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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 RCV001011046 SCV001171325 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-16 criteria provided, single submitter clinical testing The p.V443I variant (also known as c.1327G>A), located in coding exon 14 of the MUTYH gene, results from a G to A substitution at nucleotide position 1327. The valine at codon 443 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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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