ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)

gnomAD frequency: 0.00001  dbSNP: rs778092585
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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 RCV001066372 SCV001231379 uncertain significance Imerslund-Grasbeck syndrome 2020-02-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 1034 of the CUBN protein (p.Gly1034Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CUBN-related conditions. This variant is present in population databases (rs778092585, ExAC 0.006%).
Fulgent Genetics, Fulgent Genetics RCV002489698 SCV002789791 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-18 criteria provided, single submitter clinical testing

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