ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)

dbSNP: rs750443041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760360 SCV000890222 pathogenic not provided 2021-12-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 15689361, 17318636, 16001438, 15221789, 16141003)
Invitae RCV001051737 SCV001215907 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-05-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 620114). This premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy (PMID: 15689361, 16001438). This variant is present in population databases (rs750443041, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu323*) 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).
Baylor Genetics RCV003461018 SCV004213814 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-12-25 criteria provided, single submitter clinical testing

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