ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala)

gnomAD frequency: 0.00001  dbSNP: rs781445050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220880 SCV001392893 uncertain significance Fanconi anemia 2019-04-17 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 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"). This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is present in population databases (rs781445050, ExAC 0.002%). This sequence change replaces glutamic acid with alanine at codon 521 of the FANCC protein (p.Glu521Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine.
Ambry Genetics RCV002402671 SCV002704971 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-29 criteria provided, single submitter clinical testing The p.E521A variant (also known as c.1562A>C), located in coding exon 14 of the FANCC gene, results from an A to C substitution at nucleotide position 1562. The glutamic acid at codon 521 is replaced by alanine, an amino acid with dissimilar 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.
Natera, Inc. RCV001220880 SCV002081133 uncertain significance Fanconi anemia 2018-05-07 no assertion criteria provided clinical testing

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