ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1958+1_1958+4dup

dbSNP: rs1060503356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766593 SCV000552732 likely benign Familial adenomatous polyposis 1 2024-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573066 SCV000667398 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-11 criteria provided, single submitter clinical testing The c.1958+1_1958+4dupGTAT intronic variant, results from a duplication of the first 4 nucleotides of intron 14 of the APC gene. This nucleotide region 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.
Color Diagnostics, LLC DBA Color Health RCV000573066 SCV000686869 likely benign Hereditary cancer-predisposing syndrome 2016-09-08 criteria provided, single submitter clinical testing
GeneDx RCV003324753 SCV004030593 uncertain significance not provided 2023-08-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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