ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)

dbSNP: rs886042540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000299868 SCV000334835 pathogenic not provided 2015-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855114 SCV002227761 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2021-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 283032). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe151*) 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).
Baylor Genetics RCV001855114 SCV004201054 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-03-15 criteria provided, single submitter clinical testing

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