ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)

gnomAD frequency: 0.00002  dbSNP: rs758866109
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000684927 SCV000812389 uncertain significance Fanconi anemia 2022-10-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 558 of the FANCC protein (p.Val558Phe). This variant is present in population databases (rs758866109, 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: 565379). 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: "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.
Baylor Genetics RCV001788325 SCV002030188 uncertain significance Fanconi anemia complementation group C 2021-11-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002397358 SCV002704452 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-10 criteria provided, single submitter clinical testing The p.V558F variant (also known as c.1672G>T), located in coding exon 14 of the FANCC gene, results from a G to T substitution at nucleotide position 1672. The valine at codon 558 is replaced by phenylalanine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV001788325 SCV002786478 uncertain significance Fanconi anemia complementation group C 2022-02-15 criteria provided, single submitter clinical testing
GeneDx RCV003442017 SCV004167878 uncertain significance not provided 2023-04-11 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])

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