ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002853050 SCV003226020 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SGCB protein in which other variant(s) (p.Met247Asnfs*33) have been determined to be pathogenic (PMID: 15938573). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SGCB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys237Phefs*18) in the SGCB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the SGCB protein.

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