ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1166G>A (p.Gly389Asp)

dbSNP: rs2071942181
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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 RCV001234521 SCV001407172 uncertain significance Fanconi anemia 2019-11-04 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 389 of the FANCC protein (p.Gly389Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid.
Ambry Genetics RCV003353237 SCV004056776 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-23 criteria provided, single submitter clinical testing The p.G389D variant (also known as c.1166G>A), located in coding exon 12 of the FANCC gene, results from a G to A substitution at nucleotide position 1166. The glycine at codon 389 is replaced by aspartic acid, an amino acid with similar 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.

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