Submissions for variant NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)

gnomAD frequency: 0.00044  dbSNP: rs143762717

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724811	SCV000231347	uncertain significance	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000352290	SCV000431852	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401726	SCV000431853	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001080306	SCV000649737	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000724811	SCV000715709	likely benign	not provided	2020-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724811	SCV001152344	uncertain significance	not provided	2018-12-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080306	SCV001298127	uncertain significance	Qualitative or quantitative defects of dysferlin	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Kids Neuroscience Centre, Sydney Children's Hospitals Network	RCV001276873	SCV001571524	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B		criteria provided, single submitter	provider interpretation	No evidence that the c.6057G>A variant affects the splicing of DYSF mRNA. This variant is synonymous p.(Arg2019=) and is not predicted to impact the DYSF protein.
Athena Diagnostics	RCV000724811	SCV002770748	uncertain significance	not provided	2021-10-29	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000724811	SCV003831357	likely benign	not provided	2023-07-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003243003	SCV003950191	likely benign	Inborn genetic diseases	2023-05-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003977471	SCV004798796	likely benign	DYSF-related disorder	2020-09-14	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV001276873	SCV001463488	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-06-13	no assertion criteria provided	clinical testing