Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000666413 | SCV000790701 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-04-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000666413 | SCV001575987 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-11-28 | criteria provided, single submitter | clinical testing | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in disruption of mRNA splicing and introduces a premature termination codon (PMID: 27081656). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 551370). This variant is also known as IVS19+1 ins GT, c.2115insGT. This variant has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 15689361, 17562833, 27081656, 31127727). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs760919949, gnomAD 0.0009%). This sequence change falls in intron 19 of the CAPN3 gene. It does not directly change the encoded amino acid sequence of the CAPN3 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. |
| Baylor Genetics | RCV003459577 | SCV004213833 | likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2022-06-18 | criteria provided, single submitter | clinical testing |