ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.990C>A (p.Ser330Arg)

dbSNP: rs374915316
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538115 SCV000626265 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 330 of the FANCC protein (p.Ser330Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. 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: "Deleterious"; PolyPhen-2: "Benign"; 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 RCV002384042 SCV002695842 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-20 criteria provided, single submitter clinical testing The p.S330R variant (also known as c.990C>A), located in coding exon 9 of the FANCC gene, results from a C to A substitution at nucleotide position 990. The serine at codon 330 is replaced by arginine, an amino acid with dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV002483354 SCV002776512 uncertain significance Fanconi anemia complementation group C 2021-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000538115 SCV002081196 uncertain significance Fanconi anemia 2020-03-23 no assertion criteria provided clinical testing

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