ClinVar Miner

Submissions for variant NM_000136.2(FANCC):c.672C>T (p.Asn224=) (rs150647141)

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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 RCV000566669 SCV000673302 likely benign Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000124963 SCV000168403 benign not specified 2014-02-20 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.
Integrated Genetics/Laboratory Corporation of America RCV000124963 SCV000917331 uncertain significance not specified 2018-04-30 criteria provided, single submitter clinical testing Variant summary: FANCC c.672C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was found at a frequency of 0.00013 in 263702 control chromosomes. This frequency is not higher than expected for a pathogenic variant in FANCC causing Fanconi Anemia Group C (0.00013 vs 0.0018), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.672C>T in individuals affected with Fanconi Anemia Group C and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and both classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000227447 SCV000283596 likely benign Fanconi anemia 2016-03-04 criteria provided, single submitter clinical testing

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