ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1800+2T>C

gnomAD frequency: 0.00002  dbSNP: rs748194118
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893662 SCV002175352 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-09-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 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: 1398928). This variant is also known as IVS15+2T>C. Disruption of this splice site has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 15689361, 22443334). This variant is present in population databases (rs748194118, gnomAD 0.004%).

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