ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro)

gnomAD frequency: 0.00003  dbSNP: rs1414696119
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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 RCV000687585 SCV000815161 uncertain significance Fanconi anemia 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 487 of the FANCG protein (p.Thr487Pro). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 567486). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004972854 SCV005580658 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The p.T487P variant (also known as c.1459A>C), located in coding exon 11 of the FANCG gene, results from an A to C substitution at nucleotide position 1459. The threonine at codon 487 is replaced by proline, 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 RCV005046925 SCV005675462 uncertain significance Fanconi anemia complementation group G 2024-02-03 criteria provided, single submitter clinical testing

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