ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)

dbSNP: rs144764663
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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 RCV001349991 SCV001544361 uncertain significance Fanconi anemia 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 613 of the FANCB protein (p.Arg613Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCB-related conditions. 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"). 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 RCV002486439 SCV002781680 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2021-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692613 SCV005192366 uncertain significance not provided criteria provided, single submitter not provided

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