ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.8923G>A (p.Gly2975Arg)

gnomAD frequency: 0.00001  dbSNP: rs1485719380
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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 RCV003612341 SCV004547251 uncertain significance Imerslund-Grasbeck syndrome 2023-06-17 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2975 of the CUBN protein (p.Gly2975Arg).

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