ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4533C>T (p.Leu1511=) (rs150089434)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234254 SCV000282757 likely benign Familial adenomatous polyposis 1 2017-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000418393 SCV000516191 likely benign not specified 2017-11-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000418393 SCV000600103 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568570 SCV000667297 likely benign Hereditary cancer-predisposing syndrome 2015-01-22 criteria provided, single submitter clinical testing
Color RCV000568570 SCV000681671 likely benign Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587543 SCV000694055 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing Variant summary: The APC c.4533C>T (p.Leu1511Leu) 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. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect any ESE site. This variant was found in 4/120644 control chromosomes at a frequency of 0.0000332, which does not exceed the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714). This variat has been found in one CRC tumor sample without confirmation of being a somatic or germline variant. Taken together, this variant is classified as VUS-possibly benign.

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