Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627315 | SCV000748307 | pathogenic | not provided | 2022-03-15 | 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614) |
Invitae | RCV001209561 | SCV001381001 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-06-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg131*) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 523842). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001209561 | SCV003808127 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-02-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001209561 | SCV004200988 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2024-02-09 | criteria provided, single submitter | clinical testing |