ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)

dbSNP: rs764086484
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668298 SCV000792873 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668298 SCV000834391 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp772Asnfs*3) 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 present in population databases (rs764086484, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 7720071, 25135358). This variant is also known as 2313delAGAC. ClinVar contains an entry for this variant (Variation ID: 552945). 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.
Fulgent Genetics, Fulgent Genetics RCV002499161 SCV002809873 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-06-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459594 SCV004213825 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000668298 SCV002085559 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-02-12 no assertion criteria provided clinical testing

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