ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002853211 SCV003225600 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu87*) in the SGCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SGCG-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV002853211 SCV004201049 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-06-17 criteria provided, single submitter clinical testing

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