ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.209T>A (p.Leu70Gln)

gnomAD frequency: 0.00001  dbSNP: rs150174412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070979 SCV001236259 uncertain significance Fanconi anemia 2023-02-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 70 of the FANCC protein (p.Leu70Gln). This variant is present in population databases (rs150174412, gnomAD 0.007%). 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: 863907). 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 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 RCV001759849 SCV001997042 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing 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])
Ambry Genetics RCV002418557 SCV002730359 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-27 criteria provided, single submitter clinical testing The p.L70Q variant (also known as c.209T>A), located in coding exon 2 of the FANCC gene, results from a T to A substitution at nucleotide position 209. The leucine at codon 70 is replaced by glutamine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002489711 SCV002783037 uncertain significance Fanconi anemia complementation group C 2021-11-02 criteria provided, single submitter clinical testing

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