Submissions for variant NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)

gnomAD frequency: 0.71202  dbSNP: rs2303596

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080244	SCV000112139	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080244	SCV000269048	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Asp627Asp in exon 20 of DYSF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 29.0% (2493/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2303596).
PreventionGenetics, part of Exact Sciences	RCV000080244	SCV000309649	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302229	SCV000431737	benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357010	SCV000431738	benign	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000080244	SCV000519291	benign	not specified	2016-01-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000711550	SCV000841929	benign	not provided	2017-03-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137671	SCV001297637	benign	Qualitative or quantitative defects of dysferlin	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001137671	SCV001725271	benign	Qualitative or quantitative defects of dysferlin	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527212	SCV001738158	benign	Miyoshi muscular dystrophy 1	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001274448	SCV001875862	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664337	SCV001875863	benign	Distal myopathy with anterior tibial onset	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711550	SCV005240187	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000080244	SCV000151016	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc.	RCV001274448	SCV001458649	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000080244	SCV001739991	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000080244	SCV001923590	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080244	SCV001954558	benign	not specified		no assertion criteria provided	clinical testing