ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys)

gnomAD frequency: 0.00001  dbSNP: rs758926056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323948 SCV001514883 uncertain significance Fanconi anemia 2023-04-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 720 of the FANCB protein (p.Tyr720Cys). This variant is present in population databases (rs758926056, gnomAD 0.001%), 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. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1023841).
Breakthrough Genomics, Breakthrough Genomics RCV004692505 SCV005192365 uncertain significance not provided criteria provided, single submitter not provided

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