Submissions for variant NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)

gnomAD frequency: 0.00112  dbSNP: rs144636654

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725533	SCV000337583	uncertain significance	not provided	2015-11-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367959	SCV000431775	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403556	SCV000431776	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000725533	SCV000583084	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24239059, 30564623, 18832576, 24438169)
Athena Diagnostics	RCV000725533	SCV000613196	uncertain significance	not provided	2021-07-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079396	SCV000649644	likely benign	Qualitative or quantitative defects of dysferlin	2025-01-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079396	SCV001297771	uncertain significance	Qualitative or quantitative defects of dysferlin	2018-01-12	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.
Pars Genome Lab	RCV001449649	SCV001652848	uncertain significance	Miyoshi muscular dystrophy 1	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725533	SCV001746364	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	DYSF: BS2
Myriad Genetics, Inc.	RCV001810433	SCV002060089	uncertain significance	Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset	2021-10-20	criteria provided, single submitter	clinical testing	NM_003494.3(DYSF):c.2902A>T(M968L) is a missense variant classified as a variant of uncertain significance in the context of dysferlinopathy. M968L has been observed in cases with relevant disease (PMID: 18832576, 30564623, 24239059). Functional assessments of this variant are not available in the literature. M968L has been observed in population frequency databases (gnomAD: NFE 0.22%). In summary, there is insufficient evidence to classify NM_003494.3(DYSF):c.2902A>T(M968L) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.
Mayo Clinic Laboratories, Mayo Clinic	RCV000725533	SCV004224924	uncertain significance	not provided	2023-03-08	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272822	SCV001455212	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-01-12	no assertion criteria provided	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV004552986	SCV001749661	not provided	DYSF-related disorder		no assertion provided	phenotyping only
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725533	SCV001979996	uncertain significance	not provided		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV000725533	SCV002075177	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Likely benign and reported on 05-29-2019 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.