ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1524+1G>A

dbSNP: rs1275289254
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Total submissions: 2
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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

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