Submissions for variant NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)

dbSNP: rs1555568518

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000592869	SCV000701341	likely pathogenic	not provided	2016-07-18	criteria provided, single submitter	clinical testing
Invitae	RCV000648060	SCV000769870	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2022-07-19	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn109Ilefs*7) 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). This premature translational stop signal has been observed in individuals with SGCA-related conditions (Invitae). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 497103).
Revvity Omics, Revvity	RCV000648060	SCV002020097	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2019-02-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000648060	SCV003931658	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2023-02-08	criteria provided, single submitter	clinical testing