Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Prenatal Diagnosis Center, |
RCV000710019 | SCV001622422 | pathogenic | Hearing loss, autosomal recessive 111 | 2021-05-13 | criteria provided, single submitter | clinical testing | |
3billion | RCV000710019 | SCV002058530 | pathogenic | Hearing loss, autosomal recessive 111 | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000585269, PMID:29961571, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000397, PM2_M). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (3billion dataset, PM3_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Genetic Testing Center for Deafness, |
RCV000710019 | SCV002762662 | pathogenic | Hearing loss, autosomal recessive 111 | 2022-12-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000710019 | SCV000840384 | pathogenic | Hearing loss, autosomal recessive 111 | 2019-02-22 | no assertion criteria provided | literature only | |
Laboratory of Molecular Genetics, |
RCV000710019 | SCV000986688 | pathogenic | Hearing loss, autosomal recessive 111 | 2019-08-28 | no assertion criteria provided | research | The variant, NM_005797.3:c.220C>T, was found in the observed patient which is segregated with ARNSHL. The patient showed a characteristic of moderate and progressive hearing loss and it was a sporadic case in his family. |
Molecular Genetics laboratory, |
RCV003325308 | SCV004031295 | likely pathogenic | not provided | 2018-04-12 | no assertion criteria provided | clinical testing |