ClinVar Miner

Submissions for variant NM_000038.6(APC):c.537C>A (p.Ser179=) (rs149736402)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167064 SCV000217891 likely benign Hereditary cancer-predisposing syndrome 2014-12-04 criteria provided, single submitter clinical testing
Invitae RCV000469176 SCV000562669 likely benign Familial adenomatous polyposis 1 2017-05-04 criteria provided, single submitter clinical testing
Color RCV000167064 SCV000687019 likely benign Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587471 SCV000694078 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing Variant summary: The APC c.537C>A (p.Ser179Ser) variant causes a synonymous change involving a non-conserved nucleotide with 4/5 splice prediction tools predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/107130, which does not exceed the estimated maximal expected allele frequency for a pathogenic APC variant of 1/14005 (0.0000714). The variant of interest has not, to our knowledge, been reported in affected individuals via publications, although a reputable clinical laboratory cites the variant as "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as VUS-possibly benign until additional information becomes available.

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