ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)

dbSNP: rs2147425036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876805 SCV002123367 uncertain significance Fanconi anemia 2023-06-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1356788). 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. This variant has not been reported in the literature in individuals affected with FANCB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 377 of the FANCB protein (p.Asp377Gly).
Fulgent Genetics, Fulgent Genetics RCV002482475 SCV002791064 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2022-03-22 criteria provided, single submitter clinical testing

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