ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.120G>C (p.Gln40His)

dbSNP: rs905858585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303767 SCV001493025 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 40 of the FANCC protein (p.Gln40His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002357104 SCV002648405 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-09 criteria provided, single submitter clinical testing The p.Q40H variant (also known as c.120G>C), located in coding exon 1 of the FANCC gene, results from a G to C substitution at nucleotide position 120. The glutamine at codon 40 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well 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.
Natera, Inc. RCV001303767 SCV002081308 uncertain significance Fanconi anemia 2018-10-30 no assertion criteria provided clinical testing

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