Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727382 | SCV000708022 | pathogenic | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727382 | SCV002244599 | pathogenic | not provided | 2023-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg347*) in the TRIOBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIOBP are known to be pathogenic (PMID: 16385457, 16385458, 20510926). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1490). This premature translational stop signal has been observed in individual(s) with nonsyndromic deafness (PMID: 16385458). This variant is present in population databases (rs118204026, gnomAD 0.01%). |
3billion | RCV000001555 | SCV002318557 | pathogenic | Autosomal recessive nonsyndromic hearing loss 28 | 2022-03-22 | 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. This variant has been reported as pathogenic (ClinVar ID: VCV000001490, PMID:16385458). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000399). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Gene |
RCV000727382 | SCV002820484 | pathogenic | not provided | 2022-07-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 30833958, 32747562, 33121024, 16385458, 32279305) |
OMIM | RCV000001555 | SCV000021710 | pathogenic | Autosomal recessive nonsyndromic hearing loss 28 | 2006-01-01 | no assertion criteria provided | literature only | |
Hereditary Research Laboratory, |
RCV000001555 | SCV000538125 | pathogenic | Autosomal recessive nonsyndromic hearing loss 28 | 2016-06-04 | no assertion criteria provided | research | Severe to Profound |