ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)

gnomAD frequency: 0.00002  dbSNP: rs780837561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209046 SCV001380465 uncertain significance Imerslund-Grasbeck syndrome 2021-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 3618 of the CUBN protein (p.Arg3618Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs780837561, ExAC 0.06%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002484128 SCV002776360 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-15 criteria provided, single submitter clinical testing

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