ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6214C>T (p.Arg2072Cys)

gnomAD frequency: 0.00004  dbSNP: rs149102355
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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 RCV001341701 SCV001535584 uncertain significance Imerslund-Grasbeck syndrome 2022-07-18 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1038402). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs149102355, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2072 of the CUBN protein (p.Arg2072Cys).
Fulgent Genetics, Fulgent Genetics RCV005040198 SCV005666649 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-06-21 criteria provided, single submitter clinical testing

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