ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.727_728del (p.Cys243fs)

dbSNP: rs758078849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673041 SCV000798207 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673041 SCV002247247 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-06-20 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SGCG gene (p.Cys243Leufs*75). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the SGCG protein and extend the protein by 25 additional amino acid residues. This variant is present in population databases (rs758078849, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 556967). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SGCG protein in which other variant(s) (p.Pro268Argfs*50) have been determined to be pathogenic (PMID: 8923014). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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