ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala)

gnomAD frequency: 0.00001  dbSNP: rs1020168794
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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 RCV000630950 SCV000751926 uncertain significance Fanconi anemia 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 807 of the FANCB protein (p.Glu807Ala). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FANCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 526422). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine 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.
Sema4, Sema4 RCV000630950 SCV002534246 uncertain significance Fanconi anemia 2021-12-21 criteria provided, single submitter curation
Ambry Genetics RCV004025394 SCV004869484 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.2420A>C (p.E807A) alteration is located in exon 10 (coding exon 8) of the FANCB gene. This alteration results from a A to C substitution at nucleotide position 2420, causing the glutamic acid (E) at amino acid position 807 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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