ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6526T>C (p.Leu2176=) (rs183468041)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000211925 SCV000209479 benign not specified 2014-07-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000159522 SCV000213601 likely benign Hereditary cancer-predisposing syndrome 2014-09-09 criteria provided, single submitter clinical testing
Invitae RCV000200435 SCV000252934 benign Familial adenomatous polyposis 1 2018-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282259 SCV000452037 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211925 SCV000600130 benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Color RCV000159522 SCV000681806 likely benign Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587270 SCV000694098 benign not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The APC c.6526T>C (p.Leu2176Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. This variant was found in 24/119852 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.0005199 (6/11540). This frequency is about 9 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000602), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Clinical diagnostic laboratories classified this variant as Benign/Likely Benign. Taken together, this variant is classified as Benign.
PreventionGenetics,PreventionGenetics RCV000587270 SCV000805456 likely benign not provided 2016-07-08 criteria provided, single submitter clinical testing

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