ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter)

dbSNP: rs768300296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002007231 SCV002232929 pathogenic not provided 2023-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2947*) in the SPEG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPEG are known to be pathogenic (PMID: 19118250, 25087613). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451459). This variant has not been reported in the literature in individuals affected with SPEG-related conditions. This variant is not present in population databases (gnomAD no frequency).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989738 SCV004807617 pathogenic Myopathy, centronuclear, 5 2024-03-29 criteria provided, single submitter clinical testing

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