ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003861485 SCV004669099 uncertain significance Fanconi anemia 2023-03-18 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with FANCB-related conditions. This variant is present in population databases (rs772271125, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 644 of the FANCB protein (p.His644Tyr).

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