ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)

gnomAD frequency: 0.00001  dbSNP: rs773313492
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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 RCV001206161 SCV001377457 uncertain significance Fanconi anemia 2022-10-06 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. 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. ClinVar contains an entry for this variant (Variation ID: 937196). This variant has not been reported in the literature in individuals affected with FANCB-related conditions. This variant is present in population databases (rs773313492, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 536 of the FANCB protein (p.Pro536Ser).
Fulgent Genetics, Fulgent Genetics RCV002491624 SCV002800922 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2021-10-17 criteria provided, single submitter clinical testing

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