ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002598343 SCV002956382 uncertain significance Fanconi anemia 2022-01-15 criteria provided, single submitter clinical testing 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. 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"). 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 serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 57 of the FANCC protein (p.Ser57Ala).
Ambry Genetics RCV004617055 SCV005113417 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-23 criteria provided, single submitter clinical testing The p.S57A variant (also known as c.169T>G), located in coding exon 2 of the FANCC gene, results from a T to G substitution at nucleotide position 169. The serine at codon 57 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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