ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1322del (p.Gly441fs)

dbSNP: rs1555421871
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723497 SCV000331178 pathogenic not provided 2015-12-09 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415128 SCV000492971 pathogenic Cardiac arrhythmia; Muscular dystrophy; Muscle weakness; Elbow flexion contracture; Lower-limb joint contracture 2014-09-24 criteria provided, single submitter clinical testing
DASA RCV001849361 SCV002107153 pathogenic CAPN3-related disorder 2022-03-05 criteria provided, single submitter clinical testing The c.1322delG;p.(Gly441Valfs*22) is a null frameshift variant (NMD) in the CAPN3 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (PMID: 26501342; PMID: 25135358; PMID: 17702496; PMID: 17236769) - PS4. This variant is not present in population databases (rs1555421871- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The p.(Gly441Valfs*22) was detected in trans with a pathogenic variant (PMID: 26501342; PMID: 25135358) - PM3. In summary, the currently available evidence indicates that the variant is pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000359171 SCV002245303 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-07-07 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly441Valfs*22) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 281062). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 15733273).
MGZ Medical Genetics Center RCV000359171 SCV002581699 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-08-10 criteria provided, single submitter clinical testing
Counsyl RCV000359171 SCV000793914 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-09-12 no assertion criteria provided clinical testing
Baylor Genetics RCV003475888 SCV004211538 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-12 flagged submission clinical testing

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