ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1626+1G>A (rs1554081934)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000583632 SCV000888720 pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV000819300 SCV000959953 likely pathogenic Familial adenomatous polyposis 1 2018-10-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 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 been reported in individuals in the Universal Mutation Database (PMID: 10612827). ClinVar contains an entry for this variant (Variation ID: 492656). 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000583632 SCV000691716 likely pathogenic not provided no assertion criteria provided clinical testing

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