ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.679T>C (p.Tyr227His)

gnomAD frequency: 0.00002  dbSNP: rs1398803909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350370 SCV001544764 uncertain significance Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 227 of the FANCB protein (p.Tyr227His). 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: 1045890). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Sema4, Sema4 RCV001350370 SCV002536438 uncertain significance Fanconi anemia 2021-10-04 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003405585 SCV004105054 uncertain significance FANCB-related disorder 2023-07-24 criteria provided, single submitter clinical testing The FANCB c.679T>C variant is predicted to result in the amino acid substitution p.Tyr227His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-14882954-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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