ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr)

gnomAD frequency: 0.00001  dbSNP: rs761577575
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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 RCV001943456 SCV002189693 uncertain significance Imerslund-Grasbeck syndrome 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 2455 of the CUBN protein (p.Asp2455Tyr). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1420081). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002491912 SCV002800808 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-10-15 criteria provided, single submitter clinical testing

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