ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.164C>T (p.Thr55Met)

gnomAD frequency: 0.00001  dbSNP: rs774556167
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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 RCV001237123 SCV001409874 uncertain significance Imerslund-Grasbeck syndrome 2023-02-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 55 of the CUBN protein (p.Thr55Met). This variant is present in population databases (rs774556167, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of genetic kidney disease (PMID: 31613795, 33226606). ClinVar contains an entry for this variant (Variation ID: 963138). 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 RCV002484296 SCV002779745 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-21 criteria provided, single submitter clinical testing

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