ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.104G>C (p.Cys35Ser)

gnomAD frequency: 0.00001  dbSNP: rs143212932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568036 SCV000673348 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-08 criteria provided, single submitter clinical testing The c.104G>C (p.C35S) alteration is located in exon 2 (coding exon 1) of the FANCC gene. This alteration results from a G to C substitution at nucleotide position 104, causing the cysteine (C) at amino acid position 35 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001202318 SCV001373426 uncertain significance Fanconi anemia 2024-06-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 35 of the FANCC protein (p.Cys35Ser). This variant is present in population databases (rs143212932, gnomAD 0.02%). 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: 485553). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV001584391 SCV001813375 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on 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 RCV002491133 SCV002792202 uncertain significance Fanconi anemia complementation group C 2024-04-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001202318 SCV002081311 uncertain significance Fanconi anemia 2018-01-29 no assertion criteria provided clinical testing

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