ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.166-5C>T

gnomAD frequency: 0.00001  dbSNP: rs753820400
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232327 SCV000283586 likely benign Fanconi anemia 2024-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001722206 SCV000512962 likely benign not provided 2019-06-04 criteria provided, single submitter clinical testing
Mendelics RCV000988222 SCV001137859 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012621 SCV001173097 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-23 criteria provided, single submitter clinical testing The c.166-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 2 in the FANCC gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001722206 SCV005625586 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing The FANCC c.166-5C>T variant has not been reported in individuals with FANCC-related conditions in the published literature. The frequency of this variant in the general population, 0.00023 (8/34540 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect FANCC mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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