Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091915 | SCV001248194 | pathogenic | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001091915 | SCV001480105 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375176 | SCV001571782 | likely pathogenic | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PVS1_Strong, PM2_Moderate, PM3_Supporting |
Center of Genomic medicine, |
RCV001799517 | SCV001739311 | pathogenic | Autosomal recessive nonsyndromic hearing loss 49 | 2020-10-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001091915 | SCV003525828 | pathogenic | not provided | 2022-06-19 | criteria provided, single submitter | clinical testing | This variant is also known as TRIC IVS4+2T>C. For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 17186462). ClinVar contains an entry for this variant (Variation ID: 871776). Disruption of this splice site has been observed in individual(s) with autosomal recessive deafness (PMID: 22097895, 25666562). This variant is present in population databases (rs772048719, gnomAD 0.02%). This sequence change affects a donor splice site in intron 4 of the MARVELD2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MARVELD2 are known to be pathogenic (PMID: 17186462). |
3billion | RCV001799517 | SCV003841765 | pathogenic | Autosomal recessive nonsyndromic hearing loss 49 | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.004%). This variant was predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000871776 / PMID: 17186462 / 3billion dataset). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Gene |
RCV001091915 | SCV005325152 | pathogenic | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 34426522, 34238775, 32445360, 26561413, 18084694, 17186462, 25652404, 32884365, 30303587, 25666562, 22097895, 25885414, 30872814, 29752989, 34440452, 32847582, 37108562, 30406641) |
OMIM | RCV001799517 | SCV000021406 | pathogenic | Autosomal recessive nonsyndromic hearing loss 49 | 2008-01-01 | no assertion criteria provided | literature only |