ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)

gnomAD frequency: 0.00001  dbSNP: rs538875706
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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 RCV000567484 SCV000673328 likely benign Hereditary cancer-predisposing syndrome 2023-07-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000630855 SCV000751826 uncertain significance Fanconi anemia 2022-09-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 179 of the FANCC protein (p.Arg179Gln). This variant is present in population databases (rs538875706, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 485544). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCC protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001788294 SCV002030928 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Gordon2000[Book])
Fulgent Genetics, Fulgent Genetics RCV002476246 SCV002782679 uncertain significance Fanconi anemia complementation group C 2021-07-06 criteria provided, single submitter clinical testing

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