ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.790A>G (p.Ser264Gly)

gnomAD frequency: 0.00002  dbSNP: rs111657009
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204620 SCV000261209 uncertain significance Fanconi anemia 2022-07-30 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 220568). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs111657009, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 264 of the FANCC protein (p.Ser264Gly).
Ambry Genetics RCV001026941 SCV001189419 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-26 criteria provided, single submitter clinical testing The p.S264G variant (also known as c.790A>G), located in coding exon 7 of the FANCC gene, results from an A to G substitution at nucleotide position 790. The serine at codon 264 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478735 SCV002774569 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing
GeneDx RCV002478735 SCV004023580 uncertain significance not provided 2024-06-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates 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])
Natera, Inc. RCV000204620 SCV002081221 uncertain significance Fanconi anemia 2018-10-31 no assertion criteria provided clinical testing

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