Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624912 | SCV000742059 | pathogenic | Inborn genetic diseases | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986767 | SCV001135884 | pathogenic | Renal tubular acidosis with progressive nerve deafness | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001222461 | SCV001394560 | pathogenic | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg114*) in the ATP6V1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V1B1 are known to be pathogenic (PMID: 9916796, 18368028). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with distal renal tubular acidosis with deafness (PMID: 17669226). ClinVar contains an entry for this variant (Variation ID: 521461). For these reasons, this variant has been classified as Pathogenic. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000986767 | SCV003807416 | pathogenic | Renal tubular acidosis with progressive nerve deafness | 2022-08-17 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated, PM3 supporting |
Natera, |
RCV000986767 | SCV002079705 | pathogenic | Renal tubular acidosis with progressive nerve deafness | 2020-07-22 | no assertion criteria provided | clinical testing |