Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644980 | SCV000766710 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-02-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). Experimental studies have shown that alteration of this splice site disrupts mRNA splicing (PMID: 20635405). Disruption of this splice site has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy and Emery-Dreifuss muscular dystrophy (PMID: 17258832, 19556129, 20635405). ClinVar contains an entry for this variant (Variation ID: 536512). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 11 of the CAPN3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Baylor Genetics | RCV003459540 | SCV004213837 | likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2022-03-07 | criteria provided, single submitter | clinical testing |