ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs398123262
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.
CeGaT Center for Human Genetics Tuebingen RCV000173087 SCV001250324 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity 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, NCGM 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, KTest RCV001594381 SCV001499974 pathogenic Primary dilated cardiomyopathy no assertion criteria provided clinical testing
Natera, Inc. RCV001049531 SCV002083006 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-08-10 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.