ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.768del (p.Ser257fs)

dbSNP: rs1199421806
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671426 SCV000796401 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2017-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671426 SCV003461769 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-05-01 criteria provided, single submitter clinical testing 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.Cys283Tyr) have been determined to be pathogenic (PMID: 10447257, 15322984, 22095924). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change creates a premature translational stop signal (p.Ser257Alafs*23) in the SGCG gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acid(s) of the SGCG protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 30107846). ClinVar contains an entry for this variant (Variation ID: 555584).

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