ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.964G>A (p.Asp322Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002398685 SCV002707871 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-03 criteria provided, single submitter clinical testing The p.D350N variant (also known as c.1048G>A), located in coding exon 12 of the MUTYH gene, results from a G to A substitution at nucleotide position 1048. The aspartic acid at codon 350 is replaced by asparagine, 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.
Baylor Genetics RCV003465727 SCV004198954 uncertain significance Familial adenomatous polyposis 2 2023-05-13 criteria provided, single submitter clinical testing

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