ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1958+1G>A (rs1114167569)

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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 RCV000491035 SCV000579847 pathogenic Hereditary cancer-predisposing syndrome 2016-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503747 SCV000591101 pathogenic Familial adenomatous polyposis criteria provided, single submitter clinical testing
Invitae RCV000795102 SCV000934544 pathogenic Familial adenomatous polyposis 1 2018-08-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the last intron (intron 15) of the APC gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an several individuals affected with familial adenomatous polyposis (PMID: 15459959, 20685668, 12007223, 16088911,20223039). This variant has also been reported as IVS14+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 428125). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant results in skipping of exon 15. Exon 15 is also known as exon 14 in the literature (PMID: 15459959). For these reasons, this variant has been classified as Pathogenic.

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