ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)

gnomAD frequency: 0.00001  dbSNP: rs866138487
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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 RCV001324210 SCV001515154 uncertain significance Fanconi anemia 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 373 of the FANCB protein (p.Asp373Gly). This variant is present in population databases (no rsID available, gnomAD 0.03%). 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: 1024072). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics, Fulgent Genetics RCV005005173 SCV002779731 uncertain significance Fanconi anemia complementation group B 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416208 SCV004106717 uncertain significance FANCB-related disorder 2023-03-24 criteria provided, single submitter clinical testing The FANCB c.1118A>G variant is predicted to result in the amino acid substitution p.Asp373Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of Latino descent in gnomAD, but has not been observed in the hemizygous state (http://gnomad.broadinstitute.org/variant/X-14876063-T-C). 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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