Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599060 | SCV000710729 | likely pathogenic | not provided | 2021-01-05 | criteria provided, single submitter | clinical testing | Frameshift 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; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000599060 | SCV004305610 | pathogenic | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr2669Asnfs*43) in the MYO15A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO15A are known to be pathogenic (PMID: 17546645). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MYO15A-related conditions. ClinVar contains an entry for this variant (Variation ID: 504407). For these reasons, this variant has been classified as Pathogenic. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000735770 | SCV000863930 | pathogenic | Autosomal recessive nonsyndromic hearing loss 3 | 2018-08-31 | no assertion criteria provided | clinical testing |