ClinVar Miner

Submissions for variant NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) (rs752492870)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000315588 SCV000337151 pathogenic not provided 2015-11-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353900 SCV000449674 likely pathogenic Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing The c.31C>T (p.Gln11Ter) variant is a stop-gained variant that has been described in four studies, in which it is found in a compound heterozygous state in four limb-girdle muscular dystrophy patients (Duggan et al. 1997; Ginjaar et al. 2000; Love et al. 2004; Khadilkar et al. 2009). Control data are unavailable for this variant which is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the potential impact of stop-gained variants and evidence from the literature the p.Gln11Ter variant is classified as likely pathogenic for recessive limb-girdle muscular dystrophy.
Illumina Clinical Services Laboratory,Illumina RCV000778733 SCV000915091 likely pathogenic Qualitative or quantitative defects of beta-sarcoglycan 2016-09-27 criteria provided, single submitter clinical testing The SGCB c.31C>T (p.Gln11Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. This variant has been described in four studies, in which it is found in a compound heterozygous state in four unrelated individuals with beta-sarcoglycanopathy, or limb-girdle muscular dystrophy type 2E (Duggan et al. 1997; Ginjaar et al. 2000; Love et al. 2004; Khadilkar et al. 2009). Control data are unavailable for this variant, which is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the evidence from the literature and the potential impact of stop-gained variants, the p.Gln11Ter variant is classified as likely pathogenic for beta-sarcoglycanopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000808980 SCV000949114 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-07-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln11*) in the SGCB gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in combination with another SGCB variant in individuals affected with limb girdle muscular dystrophy or with clinical features of this condition (PMID: 10993494, 19770540, 9032047). ClinVar contains an entry for this variant (Variation ID: 284502). Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000315588 SCV001502459 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing

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