Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001060271 | SCV001224948 | pathogenic | not provided | 2023-07-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg972*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is present in population databases (rs782281371, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18181211). ClinVar contains an entry for this variant (Variation ID: 855092). For these reasons, this variant has been classified as Pathogenic. |
3billion | RCV001809972 | SCV002058309 | pathogenic | Usher syndrome type 1 | 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 to be associated with MYO7A related disorder (ClinVar ID: VCV000855092, PMID:18181211, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Fulgent Genetics, |
RCV002497440 | SCV002810288 | likely pathogenic | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001060271 | SCV005201907 | pathogenic | not provided | 2023-10-16 | 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 31266775, 34948090, 34148116, 18181211) |
Natera, |
RCV001832540 | SCV002086648 | pathogenic | Usher syndrome type 1B | 2020-10-02 | no assertion criteria provided | clinical testing |