ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val)

dbSNP: rs1325181765
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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 RCV001935615 SCV002194571 uncertain significance Imerslund-Grasbeck syndrome 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1310 of the CUBN protein (p.Ile1310Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002484507 SCV002793346 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-15 criteria provided, single submitter clinical testing

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