Submissions for variant NM_024301.5(FKRP):c.249C>T (p.Ala83=)

gnomAD frequency: 0.00897  dbSNP: rs149030303

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082174	SCV000114120	benign	not specified	2012-11-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082174	SCV000151161	benign	not specified	2013-12-30	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000082174	SCV000269110	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Ala83Ala in exon 4 of FKRP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.3% (115/8570) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs149030303).
Invitae	RCV000233707	SCV000290696	benign	Walker-Warburg congenital muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082174	SCV000314265	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000082174	SCV000513038	benign	not specified	2015-05-12	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001725965	SCV001471814	benign	not provided	2023-10-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426645	SCV002740941	benign	Cardiovascular phenotype	2019-01-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics	RCV002483151	SCV002794952	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	2021-08-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000082174	SCV003928577	benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272537	SCV001454627	benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082174	SCV001921550	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001725965	SCV001964330	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000082174	SCV002036545	benign	not specified		no assertion criteria provided	clinical testing