ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2115+1G>A

gnomAD frequency: 0.00001  dbSNP: rs766917640
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671447 SCV000796423 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000671447 SCV001226649 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 19 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 (rs766917640, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 555599). 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.
Baylor Genetics RCV003472137 SCV004211528 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671447 SCV002085553 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-21 no assertion criteria provided clinical testing

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