Submissions for variant NM_000023.4(SGCA):c.203del (p.Gly68fs)

dbSNP: rs1567739228

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000729862	SCV000857555	pathogenic	not provided	2017-10-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001862188	SCV002159527	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2020-11-15	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SGCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 594552). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly68Aspfs*143) in the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266).
Genome-Nilou Lab	RCV001862188	SCV003931642	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2023-02-08	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001862188	SCV005056691	likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2024-03-09	criteria provided, single submitter	clinical testing