ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala)

gnomAD frequency: 0.00008  dbSNP: rs748933632
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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 RCV002005282 SCV002265071 uncertain significance Imerslund-Grasbeck syndrome 2022-10-17 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) 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. ClinVar contains an entry for this variant (Variation ID: 1473548). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs748933632, gnomAD 0.05%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 412 of the CUBN protein (p.Thr412Ala).
Fulgent Genetics, Fulgent Genetics RCV002492196 SCV002788478 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-12-29 criteria provided, single submitter clinical testing

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