ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)

dbSNP: rs1555423021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670893 SCV000795806 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670893 SCV004245621 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr679Lysfs*5) 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 variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 555136). For these reasons, this variant has been classified as Pathogenic.

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