ClinVar Miner

Submissions for variant NM_000038.6(APC):c.309A>G (p.Val103=)

dbSNP: rs863224279
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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 RCV001018605 SCV001179861 likely benign Hereditary cancer-predisposing syndrome 2018-11-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003765264 SCV001704832 likely benign Familial adenomatous polyposis 1 2023-08-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477651 SCV004222412 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect APC mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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