ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1355-1G>C

dbSNP: rs747557404
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596715 SCV000701271 pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV001072038 SCV001237381 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 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). This variant is present in population databases (rs747557404, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with autosomal recessive CAPN3-related conditions (PMID: 16650086; Invitae). ClinVar contains an entry for this variant (Variation ID: 288426). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000596715 SCV002018082 pathogenic not provided 2020-02-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463772 SCV004213803 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-02-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001072038 SCV002085509 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-04-02 no assertion criteria provided clinical testing

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