ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)

dbSNP: rs2147391126
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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 RCV001962514 SCV002211548 uncertain significance Fanconi anemia 2020-11-12 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 539 of the FANCB protein (p.Tyr539His). The tyrosine residue is weakly conserved and there is a moderate physicochemical difference between tyrosine and histidine.
Fulgent Genetics, Fulgent Genetics RCV002484659 SCV002778565 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2022-05-11 criteria provided, single submitter clinical testing

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