ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8008A>C (p.Arg2670=) (rs756875223)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554859 SCV000647744 likely benign Familial adenomatous polyposis 1 2017-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574729 SCV000667636 likely benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000574729 SCV000687158 likely benign Hereditary cancer-predisposing syndrome 2017-04-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589868 SCV000694131 uncertain significance not provided 2017-08-09 criteria provided, single submitter clinical testing Variant summary: The APC c.8008A>C (p.Arg2670Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121244 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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