ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.82_86del (p.Glu28fs)

dbSNP: rs1553940687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551664 SCV000642387 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu28Lysfs*5) 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: 466608). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV000551664 SCV004048223 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E criteria provided, single submitter clinical testing The frameshift variant c.82_86del (p.Glu28LysfsTer5) in SGCB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu28LysfsTer5 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Glutamic Acid 28, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Glu28LysfsTer5. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000551664 SCV005368028 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-04-10 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PM3_SUP

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