Submissions for variant NM_000070.3(CAPN3):c.562del (p.Gln188fs)

dbSNP: rs1566975090

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001065953	SCV001230945	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	2023-07-10	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. 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: 859768). This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln188Asnfs*32) 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).
Revvity Omics, Revvity	RCV001784621	SCV002018042	likely pathogenic	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001065953	SCV002577414	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	2022-07-14	criteria provided, single submitter	clinical testing	PVS1, PM2, PM3, PP5