ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-35C>T (rs1553136984)

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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 RCV000569246 SCV000674000 likely pathogenic Hereditary cancer-predisposing syndrome 2020-04-09 criteria provided, single submitter clinical testing The c.36+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 1 of the MUTYH gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761658 SCV000891831 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing

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