ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs)

dbSNP: rs1555420075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518731 SCV000612643 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV001243276 SCV001416423 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-25 criteria provided, single submitter clinical testing Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 446980). This sequence change creates a premature translational stop signal (p.Ile112Lysfs*7) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).

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