ClinVar Miner

Submissions for variant NM_000038.6(APC):c.933+2T>C (rs1057517559)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410141 SCV000488399 likely pathogenic Familial adenomatous polyposis 1 2016-03-18 criteria provided, single submitter clinical testing
Invitae RCV000410141 SCV000552606 likely pathogenic Familial adenomatous polyposis 1 2018-11-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial adenomatous polyposis (PMID: 15459959, 20685668). Intron 9 is also known as intron 8 in the literature. ClinVar contains an entry for this variant (Variation ID: 371831). RT-PCR analysis of RNA isolated from an affected individual did not detect aberrant splicing associated with this variant (PMID: 15459959). The clinical significance of this result is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV000491460 SCV000579785 likely pathogenic Hereditary cancer-predisposing syndrome 2017-12-08 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,Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay

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