ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)

gnomAD frequency: 0.00001  dbSNP: rs150117913
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798508 SCV000938127 uncertain significance Imerslund-Grasbeck syndrome 2018-12-03 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CUBN-related conditions. This variant is present in population databases (rs150117913, ExAC 0.02%). This sequence change replaces arginine with tryptophan at codon 2283 of the CUBN protein (p.Arg2283Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Fulgent Genetics, Fulgent Genetics RCV002487678 SCV002793218 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-01-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693279 SCV005190658 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003955512 SCV004773353 uncertain significance CUBN-related disorder 2024-02-07 no assertion criteria provided clinical testing The CUBN c.6847C>T variant is predicted to result in the amino acid substitution p.Arg2283Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. 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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