ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)

gnomAD frequency: 0.00001  dbSNP: rs914045767
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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 RCV001241001 SCV001413990 uncertain significance Fanconi anemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1280 of the FANCA protein (p.Asp1280Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002499397 SCV002815031 uncertain significance Fanconi anemia complementation group A 2021-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978186 SCV005583388 uncertain significance Inborn genetic diseases 2024-12-07 criteria provided, single submitter clinical testing The p.D1280N variant (also known as c.3838G>A), located in coding exon 39 of the FANCA gene, results from a G to A substitution at nucleotide position 3838. The aspartic acid at codon 1280 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.

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