Submissions for variant NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)

dbSNP: rs797045427

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192648	SCV000246848	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	2014-12-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000790660	SCV000338900	pathogenic	not provided	2016-01-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000192648	SCV001235090	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	2024-01-28	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg110Profs*18) 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 (rs797045427, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 18055493, 20694146). ClinVar contains an entry for this variant (Variation ID: 210563). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000790660	SCV001246424	pathogenic	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000790660	SCV003813151	pathogenic	not provided	2022-05-09	criteria provided, single submitter	clinical testing
Counsyl	RCV000192648	SCV000797748	likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2A	2018-02-08	no assertion criteria provided	clinical testing
Baylor Genetics	RCV003462299	SCV004213797	pathogenic	Muscular dystrophy, limb-girdle, autosomal dominant 4	2023-03-15	flagged submission	clinical testing