Submissions for variant NM_024301.5(FKRP):c.1405C>T (p.Leu469=)

gnomAD frequency: 0.00015  dbSNP: rs143129484

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727355	SCV000528699	likely benign	not provided	2021-06-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16344347, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083062	SCV000559442	likely benign	Walker-Warburg congenital muscular dystrophy	2025-01-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727355	SCV000707813	uncertain significance	not provided	2017-04-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002393016	SCV002698892	likely benign	Cardiovascular phenotype	2019-11-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000727355	SCV004139822	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	FKRP: BP4, BP7
Natera, Inc.	RCV001273522	SCV001456659	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2I	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533075	SCV004735566	likely benign	FKRP-related disorder	2021-06-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).