Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173087 | SCV000224171 | pathogenic | not provided | 2013-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001049531 | SCV001213584 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-10-27 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the SGCB mRNA. The next in-frame methionine is located at codon 22. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with limb-girdle muscular dystrophy (PMID: 12566530, 15938573, 25135358, 25862795). ClinVar contains an entry for this variant (Variation ID: 92660). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV000173087 | SCV001250324 | pathogenic | not provided | 2018-12-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001049531 | SCV003808138 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-01-13 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV001049531 | SCV004047729 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | criteria provided, single submitter | clinical testing | The start loss variant c.1A>G (p.Met1?) in SGCB gene has been observed in several individuals affected with SGCB-related conditions (Semplicini C et.al.,2015). This variant disrupts the initiator codon in SGCB. Other variants that disrupt this residue have been observed in affected individuals (Moreira ES et.al.,2003). This variant has been reported to the ClinVar database as Pathogenic. The p.Met1? variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The p.Met1? variant is predicted to disrupt the initiation codon, and thus potentially may interfere with protein expression. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. | |
KTest Genetics, |
RCV001594381 | SCV001499974 | pathogenic | Primary dilated cardiomyopathy | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001049531 | SCV002083006 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2021-08-10 | no assertion criteria provided | clinical testing |