Submissions for variant NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)

gnomAD frequency: 0.00910  dbSNP: rs143793528

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082175	SCV000114121	benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082175	SCV000151162	benign	not specified	2015-06-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000082175	SCV000196816	benign	not specified	2015-03-05	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.
Center for Genetic Medicine Research, Children's National Medical Center	RCV000082175	SCV000265793	uncertain significance	not specified	2015-12-01	criteria provided, single submitter	research
Invitae	RCV000227473	SCV000290697	benign	Walker-Warburg congenital muscular dystrophy	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082175	SCV000314266	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711662	SCV000603719	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000577971	SCV000679829	benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2017-08-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000711662	SCV000842049	benign	not provided	2017-09-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000577971	SCV001737259	benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2021-05-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001563823	SCV001786859	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001563824	SCV001786860	benign	Muscular dystrophy-dystroglycanopathy type B5	2021-07-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000082175	SCV002051008	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711662	SCV002563538	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FKRP: BS1, BS2
Ambry Genetics	RCV002453409	SCV002612850	benign	Cardiovascular phenotype	2019-01-03	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.
Natera, Inc.	RCV000577971	SCV001460333	benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2020-06-12	no assertion criteria provided	clinical testing