Submissions for variant NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)

dbSNP: rs1293496023

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000673908	SCV000799163	likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	2018-04-10	criteria provided, single submitter	clinical testing
Invitae	RCV000673908	SCV000957532	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	2023-11-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val433Glufs*37) 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 present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 15733273). ClinVar contains an entry for this variant (Variation ID: 557732). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV001784288	SCV002018078	pathogenic	not provided	2023-06-21	criteria provided, single submitter	clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	RCV000673908	SCV004100577	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A		criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003472162	SCV004211565	pathogenic	Muscular dystrophy, limb-girdle, autosomal dominant 4	2023-09-13	criteria provided, single submitter	clinical testing