ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)

dbSNP: rs547818652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002254411 SCV002525555 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-05-18 criteria provided, single submitter clinical testing The c.581T>G variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not previously reported to ClinVar, HGMD and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, InterVar etc. predicted this variant to be likely deleterious. A missense variant in the same position (c.581T>C, p.Leu194Ser) was earlier observed in patients affected with limb-girdle muscular dystrophy (PMID: 9673983, 19770540, 22095924) and reported to ClinVar (Accession: VCV000281085.15) and HGMD (ID: CM011483) as pathogenic/likely pathogenic. The c.581T>C variant has been reported to affect SGCG protein function (PMID: 22095924).
Labcorp Genetics (formerly Invitae), Labcorp RCV002254411 SCV003442023 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu194*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 28687063). ClinVar contains an entry for this variant (Variation ID: 1691313). For these reasons, this variant has been classified as Pathogenic.

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