ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1249A>T (p.Thr417Ser)

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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 RCV004523655 SCV005038112 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-15 criteria provided, single submitter clinical testing The p.T445S variant (also known as c.1333A>T), located in coding exon 14 of the MUTYH gene, results from an A to T substitution at nucleotide position 1333. The threonine at codon 445 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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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