ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.386-9A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288252 SCV002579612 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2021-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002288252 SCV003449039 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-06-12 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the SGCG gene. It does not directly change the encoded amino acid sequence of the SGCG protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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