ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-34C>T (rs767402084)

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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 RCV000569145 SCV000670188 pathogenic Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing The p.W12* pathogenic mutation (also known as c.36G>A), located in coding exon 1 of the MUTYH gene, results from a G to A substitution at nucleotide position 36. This changes the amino acid from a tryptophan to a stop codon within coding exon 1. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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