ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala)

gnomAD frequency: 0.00011  dbSNP: rs377159715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815464 SCV000955918 uncertain significance Imerslund-Grasbeck syndrome 2022-11-29 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: 658610). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs377159715, gnomAD 0.04%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2894 of the CUBN protein (p.Pro2894Ala).
Fulgent Genetics, Fulgent Genetics RCV002478897 SCV002788347 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243327 SCV003940836 uncertain significance Inborn genetic diseases 2023-05-15 criteria provided, single submitter clinical testing The c.8680C>G (p.P2894A) alteration is located in exon 55 (coding exon 55) of the CUBN gene. This alteration results from a C to G substitution at nucleotide position 8680, causing the proline (P) at amino acid position 2894 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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