ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn)

gnomAD frequency: 0.00004  dbSNP: rs1055448646
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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 RCV000704068 SCV000833001 uncertain significance Fanconi anemia 2024-12-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 890 of the FANCA protein (p.Ser890Asn). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with Fanconi anemia and epithelial ovarian cancer (PMID: 32546565, 35854323). ClinVar contains an entry for this variant (Variation ID: 580508). 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 FANCA protein function with a negative predictive value of 95%. 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.
Sema4, Sema4 RCV000704068 SCV002534966 uncertain significance Fanconi anemia 2021-11-15 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV005021095 SCV005644460 uncertain significance Fanconi anemia complementation group A 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000704068 SCV002092590 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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