ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2050+1del

dbSNP: rs1555423027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673760 SCV000798998 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673760 SCV001393929 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-01-09 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 18 of the CAPN3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 557598). Disruption of this splice site has been observed in individuals with limb girdle muscular dystrophy (PMID: 11525884, 15689361, 26632398, 30107846). This variant is not present in population databases (gnomAD no frequency).
Revvity Omics, Revvity RCV003133500 SCV003813162 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing

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