Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000285634 | SCV000330760 | pathogenic | not provided | 2022-11-21 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; 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 a significant frequency in large population cohorts (gnomAD) |
| Invitae | RCV000285634 | SCV002221005 | pathogenic | not provided | 2023-02-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly62*) in the TGM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TGM1 are known to be pathogenic (PMID: 18948357, 19241467). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TGM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 280810). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV000667655 | SCV002764139 | pathogenic | Autosomal recessive congenital ichthyosis 1 | criteria provided, single submitter | clinical testing | ||
| Counsyl | RCV000667655 | SCV000792140 | likely pathogenic | Autosomal recessive congenital ichthyosis 1 | 2017-06-16 | no assertion criteria provided | clinical testing |