ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln)

gnomAD frequency: 0.00004  dbSNP: rs1304316655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536957 SCV000626328 uncertain significance Fanconi anemia 2024-10-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 504 of the FANCG protein (p.Lys504Gln). This variant is present in population databases (no rsID available, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with FANCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 456230). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV004975629 SCV005580671 uncertain significance Inborn genetic diseases 2024-11-28 criteria provided, single submitter clinical testing The p.K504Q variant (also known as c.1510A>C), located in coding exon 12 of the FANCG gene, results from an A to C substitution at nucleotide position 1510. The lysine at codon 504 is replaced by glutamine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001276340 SCV005675455 uncertain significance Fanconi anemia complementation group G 2024-05-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276340 SCV001462512 uncertain significance Fanconi anemia complementation group G 2019-10-28 no assertion criteria provided clinical testing

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