Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733246 | SCV000861289 | likely pathogenic | not provided | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Baylor- |
RCV000790515 | SCV000929845 | pathogenic | Autosomal recessive nonsyndromic hearing loss 93 | criteria provided, single submitter | research | ||
Molecular Diagnostics Lab, |
RCV000790515 | SCV001335281 | pathogenic | Autosomal recessive nonsyndromic hearing loss 93 | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000733246 | SCV001397367 | pathogenic | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 of the CABP2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein. This variant is present in population databases (rs149712664, gnomAD 0.4%), and has an allele count higher than expected for a pathogenic variant. Disruption of this splice site has been observed in individual(s) with deafness (PMID: 22981119). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 597198). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that disruption of this splice site results in skipping of exon 6 and introduces a new termination codon (PMID: 22981119). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Center for Statistical Genetics, |
RCV000790515 | SCV001622777 | pathogenic | Autosomal recessive nonsyndromic hearing loss 93 | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000733246 | SCV001810803 | pathogenic | not provided | 2022-01-17 | criteria provided, single submitter | clinical testing | Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30096381, 22981119, 31053783, 30303587, 31661684, 33269433, 32991204, 32681043, 32860223, 33666369) |
Revvity Omics, |
RCV000790515 | SCV002018024 | pathogenic | Autosomal recessive nonsyndromic hearing loss 93 | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000733246 | SCV002544579 | pathogenic | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | CABP2: PM3:Strong, PP1:Strong, PVS1:Strong, PS3:Moderate, PM2:Supporting |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000790515 | SCV004176488 | pathogenic | Autosomal recessive nonsyndromic hearing loss 93 | 2023-03-01 | criteria provided, single submitter | clinical testing | The invariant splice donor c.637+1G>T variant in CABP2 gene has been observed homozygous / compound heterozygous state in individual(s) with deafness (Schrauwen et. al., 2012). It has also been observed to segregate with disease in related individuals. Studies have shown that disruption of this splice site results in skipping of exon 6 and introduces a new termination codon (Schrauwen et. al., 2012). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (Buratti et. al., 2007). The c.637+1G>T variant is novel (not in any individuals) in 1000 Genomes and has allele frequency of 0.1% in gnomAD exomes database. This variant has been reported to the ClinVar database as Likely Pathogenic / Pathogenic (multiple submitters). For these reasons, this variant has been classified as Pathogenic. In the absence of another reportable variant in CABP2 gene, the molecular diagnosis is not confirmed. |
Mayo Clinic Laboratories, |
RCV000733246 | SCV004225740 | pathogenic | not provided | 2022-09-08 | criteria provided, single submitter | clinical testing | PP1, PM3, PS4_moderate, PVS1_strong |
Prevention |
RCV003947951 | SCV004758150 | pathogenic | CABP2-related condition | 2023-12-18 | criteria provided, single submitter | clinical testing | The CABP2 c.637+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant segregated with autosomal recessive hearing loss in seven families with 15 affected and 11 unaffected individuals (Schrauwen. 2012. PubMed ID: 22981119; Ramzan. 2020. PubMed ID: 32681043; Sheyanth. 2021. PubMed ID: 33666369; Bharadwaj. 2022. PubMed ID: 35150090). This variant is reported in 0.33% of alleles in individuals of European (Finnish) descent in gnomAD. This variant is interpreted as pathogenic. |
OMIM | RCV000790515 | SCV000056718 | pathogenic | Autosomal recessive nonsyndromic hearing loss 93 | 2012-10-05 | no assertion criteria provided | literature only | |
Laboratory of Prof. |
RCV000790515 | SCV001337670 | pathogenic | Autosomal recessive nonsyndromic hearing loss 93 | 2019-07-06 | no assertion criteria provided | research | Recessive, compound heterozygous with NM_001318496.1: c.250G>A; congenital, variable SNHL |
University of Washington Center for Mendelian Genomics, |
RCV001291207 | SCV001479632 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000733246 | SCV001955407 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000733246 | SCV001970447 | pathogenic | not provided | no assertion criteria provided | clinical testing |