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
Invitae RCV000668298 SCV000834391 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-01-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552945). This variant is also known as 2313delAGAC. This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 7720071, 25135358). This variant is present in population databases (rs764086484, gnomAD 0.0009%). 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).
Fulgent Genetics, Fulgent Genetics RCV002499161 SCV002809873 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-11-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459594 SCV004213825 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-10-06 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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