ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.902C>A (p.Ala301Glu)

gnomAD frequency: 0.00003  dbSNP: rs553689536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043000 SCV002301733 uncertain significance Fanconi anemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 301 of the FANCC protein (p.Ala301Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs553689536, 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV002370710 SCV002683526 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-24 criteria provided, single submitter clinical testing The p.A301E variant (also known as c.902C>A), located in coding exon 9 of the FANCC gene, results from a C to A substitution at nucleotide position 902. The alanine at codon 301 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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