ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile)

gnomAD frequency: 0.00001  dbSNP: rs1278850689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706514 SCV000835569 uncertain significance Fanconi anemia 2023-07-08 criteria provided, single submitter clinical testing 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: 582442). 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. 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. This variant is present in population databases (no rsID available, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 706 of the FANCB protein (p.Thr706Ile).

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