ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile)

gnomAD frequency: 0.00001  dbSNP: rs995483698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822360 SCV002064845 uncertain significance not specified 2020-10-26 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCB gene demonstrated a sequence change, c.2438G>T, in exon 10 that results in an amino acid change, p.Arg813Ile. This sequence change does not appear to have been previously described in patients with FANCB-related disorders and has also not been described in population databases (gnomAD, ExAC). The p.Arg813Ile change affects a moderately conserved amino acid residue located in a domain of the FANCB protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg813Ile substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Arg813Ile change remains unknown at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869746 SCV002127670 uncertain significance Fanconi anemia 2022-09-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 813 of the FANCB protein (p.Arg813Ile). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1337762). 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 expected to disrupt FANCB 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.
CeGaT Center for Human Genetics Tuebingen RCV003883708 SCV004701751 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing FANCB: PM2, BP4

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