Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000860975 | SCV001001166 | likely benign | Imerslund-Grasbeck syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV002275164 | SCV002564172 | uncertain significance | Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign | 2021-10-01 | criteria provided, single submitter | clinical testing | The heterozygous missense variant c.10002G>C (p.Gln3334His) identified in exon 62 (of 67) of the CUBN gene has not been reported in affected individuals in the literature. The variant has 0.0009663 allele frequency in the gnomAD(v3) database (147 out of 152124 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. This variant is reported as likely benign in the ClinVar database by a single submitter (Variation ID: 695383). This variant affects a moderately conserved residue (Gln3334). In silico tools provide conflicting predictions about pathogenicity of this variant (CADD score = 22.40, REVEL score = 0.188). Due to the lack of compelling evidence for its pathogenicity, the heterozygous c.10002G>C(p.Gln3334His) missense variant identified in the CUBN gene is reported as a Variant of Uncertain Significance. |
Prevention |
RCV003955568 | SCV004774391 | likely benign | CUBN-related condition | 2023-06-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |