ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1393-3T>C

dbSNP: rs1060501330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467602 SCV000545744 likely benign Familial adenomatous polyposis 2 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491670 SCV000580083 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-30 criteria provided, single submitter clinical testing The c.1477-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 15 in the MUTYH gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this variant remains unclear.

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