ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.744G>A (p.Glu248=)

gnomAD frequency: 0.00004  dbSNP: rs778608103
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen RCV004997527 SCV005620292 likely benign Autosomal recessive limb-girdle muscular dystrophy 2025-01-09 reviewed by expert panel curation The NM_000232.5: c.744G>A (p.Glu248=) variant in SGCB is a synonymous (silent) variant that is not predicted to influence splicing by SpliceAI (score 0) (BP4, BP7). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0002892 (10/34578 alleles) in the Admixed American population (PM2_Supporting, BS1, BA1 not met). In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive limb girdle muscular dystrophy based on the ACMG/AMP criteria applied, as specified by the ClinGen LGMD VCEP (LGMD VCEP specifications version 1.0.0; 01/09/2025): BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV000951382 SCV001097779 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-05-07 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.