ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)

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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 RCV002801058 SCV003032428 uncertain significance Fanconi anemia 2023-01-19 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with FANCB-related conditions. This variant is present in population databases (rs756433447, gnomAD 0.001%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 369 of the FANCB protein (p.Ser369Arg). 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.

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