ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.87_89del (p.Arg30del)

dbSNP: rs780654411
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309094 SCV001498577 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-08-16 criteria provided, single submitter clinical testing This variant, c.87_89del, results in the deletion of 1 amino acid(s) of the SGCB protein (p.Arg30del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780654411, gnomAD 0.004%). This variant has been observed in individual(s) with neuromuscular abnormalities (PMID: 34008892). ClinVar contains an entry for this variant (Variation ID: 1011323). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001309094 SCV001976958 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-10-01 criteria provided, single submitter clinical testing PM2, PM3, PM4, PP4, PP5
GeneDx RCV002509656 SCV002819071 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Reported previously as a pathogenic variant on the opposite allele (in trans) with a second pathogenic variant in a patient with a neuromuscular abnormality; however, no further clinical information was provided (Marinakis et al.; 2021); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34008892)
Revvity Omics, Revvity RCV001309094 SCV003827610 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-05-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001309094 SCV002082993 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-03-11 no assertion criteria provided clinical testing

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