ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1102+5C>G

dbSNP: rs1553126284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565746 SCV000666469 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-28 criteria provided, single submitter clinical testing The c.1186+5C>G intronic variant results from a C to G substitution 5 nucleotides after coding exon 12 in the MUTYH gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000612831 SCV000721074 likely benign not specified 2017-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858195 SCV002154890 likely benign Familial adenomatous polyposis 2 2024-05-21 criteria provided, single submitter clinical testing

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