ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6750C>T (p.Gly2250=) (rs555799753)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122795 SCV000166052 likely benign Familial adenomatous polyposis 1 2017-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000424815 SCV000515422 likely benign not specified 2017-12-15 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 RCV000424815 SCV000600138 likely benign not specified 2017-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570370 SCV000667280 likely benign Hereditary cancer-predisposing syndrome 2015-09-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000570370 SCV000681824 likely benign Hereditary cancer-predisposing syndrome 2016-11-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679081 SCV000805457 likely benign not provided 2018-01-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000424815 SCV000916499 uncertain significance not specified 2018-07-10 criteria provided, single submitter clinical testing Variant summary: APC c.6750C>T alters a non-conserved nucleotide resulting in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.4e-05 in 245708 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.6750C>T in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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