ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr)

gnomAD frequency: 0.00001  dbSNP: rs572470830
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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 RCV001978803 SCV002225554 uncertain significance Imerslund-Grasbeck syndrome 2021-07-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 932 of the CUBN protein (p.Cys932Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs572470830, ExAC 0.009%). 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 RCV002497815 SCV002806845 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-01-03 criteria provided, single submitter clinical testing

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