ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV002282797 SCV002570396 uncertain significance Fanconi anemia complementation group A 2022-04-29 criteria provided, single submitter clinical testing This FANCA missense variant is absent from a large population dataset, and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be tolerated, and the asparagine residue at this position is not evolutionarily well conserved across most species assessed. We consider the clinical significance of c.2119A>G to be uncertain at this time.
Ambry Genetics RCV003289496 SCV003956370 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.2119A>G (p.N707D) alteration is located in exon 23 (coding exon 23) of the FANCA gene. This alteration results from a A to G substitution at nucleotide position 2119, causing the asparagine (N) at amino acid position 707 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002282797 SCV004031188 uncertain significance Fanconi anemia complementation group A 2023-06-15 criteria provided, single submitter clinical testing The FANCA c.2119A>G (p.Asn707Asp) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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