Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672896 | SCV000798048 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2018-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672896 | SCV001234520 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2022-12-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556837). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 12566530). This variant is present in population databases (rs762114570, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asn199Phefs*17) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). |
Baylor Genetics | RCV000672896 | SCV005056706 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-12-23 | criteria provided, single submitter | clinical testing |