ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)

dbSNP: rs1555568383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668953 SCV000793637 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-08-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403553 SCV004122582 uncertain significance not specified 2023-10-09 criteria provided, single submitter clinical testing Variant summary: SGCA c.279_284delCACCCC (p.Thr94_Pro95del) results in an in-frame deletion that is predicted to remove 2 amino acids from the encoded protein. The variant was absent in 248896 control chromosomes. c.279_284delCACCCC has been reported at a homozygous state in at-least one individual affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive (example, BorkluYucel_2020). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 32140910). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as likely pathogenic, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Genetic Diseases Diagnostic Center, Koc University Hospital RCV000668953 SCV000864402 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2018-12-18 no assertion criteria provided clinical testing

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