ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.265-5G>A

dbSNP: rs1003387951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552672 SCV000639311 likely benign Familial adenomatous polyposis 2 2024-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571211 SCV000662624 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-06 criteria provided, single submitter clinical testing The c.349-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 4 in the MUTYH gene. This nucleotide position is not 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). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000571211 SCV000913006 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-30 criteria provided, single submitter clinical testing

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