ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.616del (p.Glu206fs)

dbSNP: rs2053446296
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784077 SCV002018079 pathogenic not provided 2019-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544279 SCV003455487 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-02-01 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: 1325402). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 17236769). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu206Argfs*14) 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).
Fulgent Genetics, Fulgent Genetics RCV005006052 SCV005635663 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475093 SCV004211570 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-09-07 flagged submission clinical testing

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