ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)

dbSNP: rs774048414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053864 SCV001218147 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-08-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 849826). This sequence change creates a premature translational stop signal (p.Trp721*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 33931068).
Myriad Genetics, Inc. RCV001053864 SCV001442117 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-07-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462561 SCV004213770 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-05-27 criteria provided, single submitter clinical testing

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