ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.386-1G>A

gnomAD frequency: 0.00002  dbSNP: rs913248720
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669493 SCV000794250 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669493 SCV003005807 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-05-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SGCG-related conditions. This sequence change affects an acceptor splice site in intron 4 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). ClinVar contains an entry for this variant (Variation ID: 553947). 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.
Baylor Genetics RCV000669493 SCV004201036 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-09-21 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.