Submissions for variant NM_001130987.2(DYSF):c.167dup (p.Ile58fs)

dbSNP: rs863225020

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000517580	SCV000341851	pathogenic	not provided	2016-06-20	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000517580	SCV000613182	pathogenic	not provided	2014-12-08	criteria provided, single submitter	clinical testing	The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset. Found in multiple individuals with expected phenotype for this gene.
Invitae	RCV000705161	SCV000834146	pathogenic	Qualitative or quantitative defects of dysferlin	2021-06-19	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Miyoshi myopathy or limb-girdle muscular dystrophy (LGMD) (PMID: 9731526, 27671536). This variant is also known as 537insA or c.164_165insA. ClinVar contains an entry for this variant (Variation ID: 217222). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile57Hisfs*8) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480).
Revvity Omics, Revvity	RCV000517580	SCV003825663	pathogenic	not provided	2022-09-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003992232	SCV004809961	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	2024-04-04	criteria provided, single submitter	clinical testing