Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Natera, |
RCV000669411 | SCV007528782 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2025-09-09 | criteria provided, single submitter | clinical testing | The c.578+1G>C variant in SGCG is a canonical splice donor site variant predicted to affect pre-mRNA splicing, which may result in an abnormal transcript and altered protein product. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). Given the available evidence, this variant is classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV000669411 | SCV005632139 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2024-05-17 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000669411 | SCV004201063 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2024-01-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000669411 | SCV002115235 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 of the SGCG gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821). This variant is not present in population databases (gnomAD no frequency). 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: 553878). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Counsyl | RCV000669411 | SCV000794160 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2017-09-18 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |