ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1837C>G (p.Arg613Gly)

gnomAD frequency: 0.00001  dbSNP: rs1021143964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003403105 SCV004121621 uncertain significance FANCB-related disorder 2023-05-24 criteria provided, single submitter clinical testing The FANCB c.1837C>G variant is predicted to result in the amino acid substitution p.Arg613Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0060% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-14863068-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099995 SCV005776072 uncertain significance Fanconi anemia 2024-06-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 613 of the FANCB protein (p.Arg613Gly). This variant is present in population databases (no rsID available, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. 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: 2637367). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCB protein function with a negative predictive value of 80%. 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.

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