ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1838del (p.Lys613fs)

dbSNP: rs1555422832
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670620 SCV000795495 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-11-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784263 SCV002016916 pathogenic not provided 2019-07-03 criteria provided, single submitter clinical testing
Invitae RCV000670620 SCV002238524 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys613Argfs*49) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive CAPN3-related conditions (PMID: 10330340, 16607617, 18055493). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554906). 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 RCV003459617 SCV004213747 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-07-26 criteria provided, single submitter clinical testing

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