ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1801-1G>A

gnomAD frequency: 0.00002  dbSNP: rs886043752
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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) RCV000726084 SCV000341828 pathogenic not provided 2016-05-12 criteria provided, single submitter clinical testing
Invitae RCV000310673 SCV001383609 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-02-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). Disruption of this splice site has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 19556129, 22057634). ClinVar contains an entry for this variant (Variation ID: 287890). 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.
Baylor Genetics RCV003475915 SCV004211579 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-08-17 criteria provided, single submitter clinical testing
Counsyl RCV000310673 SCV000794562 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-09-29 no assertion criteria provided clinical testing

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