ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)

gnomAD frequency: 0.00001  dbSNP: rs757190154
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630830 SCV000751798 uncertain significance Fanconi anemia 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 279 of the FANCC protein (p.Ser279Thr). This variant is present in population databases (rs757190154, gnomAD 0.01%). 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: 526320). 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: "Probably 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.
GeneDx RCV001766341 SCV002000957 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter 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 RCV002438645 SCV002681515 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter clinical testing The p.S279T variant (also known as c.835T>A), located in coding exon 7 of the FANCC gene, results from a T to A substitution at nucleotide position 835. The serine at codon 279 is replaced by threonine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469224 SCV002765924 uncertain significance not specified 2022-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001274476 SCV002788051 uncertain significance Fanconi anemia complementation group C 2022-03-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274476 SCV001458699 uncertain significance Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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