ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.189A>T (p.Arg63Ser)

dbSNP: rs773388565
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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 RCV001933944 SCV002214594 uncertain significance Fanconi anemia 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 63 of the FANCC protein (p.Arg63Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004042983 SCV005032357 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-27 criteria provided, single submitter clinical testing The p.R63S variant (also known as c.189A>T), located in coding exon 2 of the FANCC gene, results from an A to T substitution at nucleotide position 189. The arginine at codon 63 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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