ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)

dbSNP: rs1881865054
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390777 SCV001592619 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076779). 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). This sequence change creates a premature translational stop signal (p.Glu171*) 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).
Revvity Omics, Revvity RCV001390777 SCV002021238 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001390777 SCV002782527 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-04-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001390777 SCV004201038 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-02-05 criteria provided, single submitter clinical testing

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