Submissions for variant NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)

gnomAD frequency: 0.00109  dbSNP: rs200990647

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173034	SCV000114123	benign	not specified	2015-03-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000173034	SCV000196818	benign	not specified	2016-05-11	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.
Invitae	RCV000234733	SCV000290699	benign	Walker-Warburg congenital muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000173034	SCV000314268	likely benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000991333	SCV000613309	benign	not provided	2018-08-30	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852755	SCV000995473	benign	Cardiomyopathy; Hypertrophic cardiomyopathy	2019-01-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173034	SCV002065972	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000173034	SCV002547564	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336238	SCV002644445	benign	Cardiovascular phenotype	2019-04-01	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	RCV002505003	SCV002800289	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	2022-04-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000991333	SCV002822583	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	FKRP: PP3, BS1, BS2
Natera, Inc.	RCV001275312	SCV001460336	benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2020-01-10	no assertion criteria provided	clinical testing