ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)

dbSNP: rs1013015106
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627315 SCV000748307 pathogenic not provided 2022-03-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
Invitae RCV001209561 SCV001381001 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg131*) 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: 523842). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001209561 SCV003808127 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001209561 SCV004200988 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-08-14 criteria provided, single submitter clinical testing

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