ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr)

gnomAD frequency: 0.00001  dbSNP: rs774029807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372186 SCV001568796 uncertain significance Fanconi anemia 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 93 of the FANCC protein (p.Cys93Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs774029807, ExAC 0.02%). 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: "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 RCV002438870 SCV002747325 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-26 criteria provided, single submitter clinical testing The p.C93Y variant (also known as c.278G>A), located in coding exon 3 of the FANCC gene, results from a G to A substitution at nucleotide position 278. The cysteine at codon 93 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004590358 SCV005079750 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on 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])
Natera, Inc. RCV001372186 SCV002081287 uncertain significance Fanconi anemia 2018-05-27 no assertion criteria provided clinical testing

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