ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)

gnomAD frequency: 0.00005  dbSNP: rs201378067
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713246 SCV000843834 uncertain significance not provided 2017-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001340319 SCV001534120 uncertain significance Myoclonic dystonia 11 2023-08-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 586563). 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. This premature translational stop signal has been observed in individual(s) with dystonia (PMID: 26046366, 31186545). This variant is present in population databases (rs201378067, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change creates a premature translational stop signal (p.Trp7*) in the SGCE gene. However, it is currently unclear if variants that occur in this region of the gene cause disease.
GeneDx RCV000713246 SCV001777880 likely pathogenic not provided 2024-09-18 criteria provided, single submitter clinical testing Identified in patients with features of SGCE-related dystonia in published literature (PMID: 26046366, 31186545); 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; This variant is associated with the following publications: (PMID: 31980526, 31186545, 37688281, 26046366)
Revvity Omics, Revvity RCV001340319 SCV002021230 pathogenic Myoclonic dystonia 11 2022-11-03 criteria provided, single submitter clinical testing
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV001340319 SCV005397774 likely pathogenic Myoclonic dystonia 11 2024-04-15 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>A) at coding position 21 of the SGCE gene that changes Trp7 to an early termination codon. As it occurs in exon 1 of 11, this variant is predicted to generate a non-functional allele through either the expression of a truncated protein or a loss of sarcoglycan epsilon expression due to nonsense mediated decay. This is a previously reported variant (ClinVar 586563) that has been observed in individuals affected by myoclonus-dystonia (PMID: 37688281, 31186545, 26046366, 31449710). This variant is present in 131 of 1611498 alleles (0.0081%) in the gnomAD v4.0.0 population dataset. Haploinsufficiency in SGCE is a known mechanism of disease. Based upon the evidence, we consider this variant to be likely pathogenic. ACMG Criteria: PS4, PVS1

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