ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.943A>G (p.Ile315Val)

gnomAD frequency: 0.00001  dbSNP: rs587779910
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115363 SCV000149272 uncertain significance not provided 2018-11-27 criteria provided, single submitter clinical testing This variant is denoted FANCC c.943A>G at the cDNA level, p.Ile315Val (I315V) at the protein level, and results in the change of an Isoleucine to a Valine (ATT>GTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Ile315Val was not observed in large population cohorts (Lek 2016). This variant is located in a region that interacts with Hsp70 (Gordon 2000). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on the currently available information, we consider FANCC Ile315Val to be a variant of uncertain significance.
Ambry Genetics RCV001019357 SCV001180705 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-12 criteria provided, single submitter clinical testing The p.I315V variant (also known as c.943A>G), located in coding exon 9 of the FANCC gene, results from an A to G substitution at nucleotide position 943. The isoleucine at codon 315 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000115363 SCV002010145 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV001831904 SCV003242372 uncertain significance Fanconi anemia 2023-08-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 127549). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 315 of the FANCC protein (p.Ile315Val). 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.
Natera, Inc. RCV001831904 SCV002081200 uncertain significance Fanconi anemia 2018-05-18 no assertion criteria provided clinical testing

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