ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2380+1G>T

dbSNP: rs1555423222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671146 SCV000796096 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671146 SCV001582824 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-01-28 criteria provided, single submitter clinical testing Donor and acceptor splice site variants 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 17994539, 18055493). ClinVar contains an entry for this variant (Variation ID: 555344). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 22 of the CAPN3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003472135 SCV004211576 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-08-23 flagged submission clinical testing

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