ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1547T>C (p.Phe516Ser)

dbSNP: rs2492036261
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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 RCV002671212 SCV002984403 uncertain significance Imerslund-Grasbeck syndrome 2022-11-28 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 516 of the CUBN protein (p.Phe516Ser).
Fulgent Genetics, Fulgent Genetics RCV005042948 SCV005671369 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-05-20 criteria provided, single submitter clinical testing

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