ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln)

gnomAD frequency: 0.00001  dbSNP: rs377637236
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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 RCV001369388 SCV001565827 uncertain significance Fanconi anemia 2023-07-07 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. 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 FANCA protein function. ClinVar contains an entry for this variant (Variation ID: 1060015). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (rs377637236, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 487 of the FANCA protein (p.Arg487Gln).
Fulgent Genetics, Fulgent Genetics RCV005014502 SCV005646633 uncertain significance Fanconi anemia complementation group A 2023-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001369388 SCV002095032 uncertain significance Fanconi anemia 2021-08-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004743437 SCV005355310 uncertain significance FANCA-related disorder 2024-08-08 no assertion criteria provided clinical testing The FANCA c.1460G>A variant is predicted to result in the amino acid substitution p.Arg487Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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