ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.946-1_948del

dbSNP: rs766156798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725572 SCV000701026 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing
Counsyl RCV000592803 SCV000794153 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-09-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725572 SCV002016918 pathogenic not provided 2020-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000592803 SCV002252833 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-04-27 criteria provided, single submitter clinical testing 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: 497002). This variant is also known as c.946-4_946-1del. Disruption of this splice site has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 19556129; Invitae). This variant is present in population databases (rs766156798, gnomAD 0.006%). This sequence change affects a splice site in intron 6 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).

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