ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003631324 SCV004551074 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln388*) 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. This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%).
Baylor Genetics RCV003460315 SCV004213759 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-06-22 flagged submission clinical testing

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