ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5626T>G (p.Ser1876Ala)

gnomAD frequency: 0.00055  dbSNP: rs145026134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002918257 SCV003255589 uncertain significance Imerslund-Grasbeck syndrome 2023-04-30 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. 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 not expected to disrupt CUBN protein function. ClinVar contains an entry for this variant (Variation ID: 2047724). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs145026134, gnomAD 0.1%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1876 of the CUBN protein (p.Ser1876Ala).
Mayo Clinic Laboratories, Mayo Clinic RCV004790272 SCV005410954 uncertain significance not provided 2024-01-17 criteria provided, single submitter clinical testing BP4_strong
GeneDx RCV004790272 SCV005690023 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004744474 SCV005351414 uncertain significance CUBN-related disorder 2024-03-16 no assertion criteria provided clinical testing The CUBN c.5626T>G variant is predicted to result in the amino acid substitution p.Ser1876Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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