Submissions for variant NM_024301.5(FKRP):c.135C>T (p.Ala45=)

gnomAD frequency: 0.14031  dbSNP: rs2287717

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082171	SCV000114117	benign	not specified	2013-10-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000082171	SCV000168553	benign	not specified	2013-10-31	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000082171	SCV000269109	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Ala45Ala 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 14.2% (625/4398) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs2287717).
PreventionGenetics, part of Exact Sciences	RCV000082171	SCV000314263	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576338	SCV000677298	benign	not provided	2017-04-28	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578086	SCV000679828	benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2017-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV001521584	SCV001730949	benign	Walker-Warburg congenital muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527275	SCV001738233	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527276	SCV001738234	benign	Muscular dystrophy-dystroglycanopathy type B5	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000578086	SCV001738235	benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2021-06-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381405	SCV002697545	benign	Cardiovascular phenotype	2018-12-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000082171	SCV003928576	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082171	SCV000151159	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.	RCV001272534	SCV001454624	benign	Dystrophin deficiency	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082171	SCV001922118	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082171	SCV001954792	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082171	SCV001975683	benign	not specified		no assertion criteria provided	clinical testing