ClinVar Miner

Submissions for variant NM_000038.6(APC):c.135+1G>T (rs750508765)

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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 RCV000570470 SCV000667744 likely pathogenic Hereditary cancer-predisposing syndrome 2017-11-15 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,RNA Studies
Invitae RCV000646409 SCV000768178 likely pathogenic Familial adenomatous polyposis 1 2017-10-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the APC gene. It is expected to disrupt RNA 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 not been reported in the literature in individuals with APC-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758720 SCV000887504 likely pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing

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