ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)

dbSNP: rs1555421280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665357 SCV000789467 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733826 SCV000861926 pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665357 SCV002236711 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-09 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 550578). This premature translational stop signal has been observed in individual(s) with autosomal recessive CAPN3-related conditions (PMID: 7720071). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp360*) 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).

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