ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)

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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 RCV003637514 SCV004552169 uncertain significance Fanconi anemia 2024-04-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 199 of the FANCG protein (p.Asp199Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCG protein function with a negative predictive value of 80%. 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 RCV004981011 SCV005580650 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The p.D199N variant (also known as c.595G>A), located in coding exon 5 of the FANCG gene, results from a G to A substitution at nucleotide position 595. The aspartic acid at codon 199 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040494 SCV005682174 uncertain significance Fanconi anemia complementation group G 2024-02-19 criteria provided, single submitter clinical testing

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