Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000734328 | SCV000862459 | uncertain significance | not provided | 2018-07-30 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV003141732 | SCV003827597 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-10-06 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479212 | SCV004222655 | uncertain significance | not specified | 2023-11-15 | criteria provided, single submitter | clinical testing | Variant summary: SGCB c.416G>A (p.Gly139Asp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251438 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.416G>A has been reported in the literature in one individual affected with Autosomal Recessive Duchenne-like muscular dystrophy without strong evidence for causality (example, Duggan_1997). These report(s) do not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. 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: 9032047). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Both submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |