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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000705161	SCV000834146	pathogenic	Qualitative or quantitative defects of dysferlin	2024-04-05	criteria provided, single submitter	clinical testing	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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals 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). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV000517580	SCV003825663	pathogenic	not provided	2022-09-07	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003992232	SCV004809961	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	2024-04-04	criteria provided, single submitter	clinical testing