ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn)

gnomAD frequency: 0.00001  dbSNP: rs1416043928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227031 SCV001399367 uncertain significance Fanconi anemia 2021-11-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 673 of the FANCB protein (p.Lys673Asn). This variant is present in population databases (no rsID available, gnomAD 0.001%). 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: 954557). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV001227031 SCV002534237 uncertain significance Fanconi anemia 2022-03-16 criteria provided, single submitter curation

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