ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys)

gnomAD frequency: 0.00001  dbSNP: rs563035840
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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 RCV001903951 SCV002125875 uncertain significance Imerslund-Grasbeck syndrome 2023-08-29 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 424 of the CUBN protein (p.Trp424Cys). This variant is present in population databases (rs563035840, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1357526). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CUBN 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 RCV002489980 SCV002784899 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-17 criteria provided, single submitter clinical testing

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