Submissions for variant NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)

gnomAD frequency: 0.00086  dbSNP: rs104894680

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000285599	SCV000345878	uncertain significance	not provided	2017-12-07	criteria provided, single submitter	clinical testing
Invitae	RCV001079454	SCV000630827	likely benign	Walker-Warburg congenital muscular dystrophy	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000285599	SCV001475115	uncertain significance	not provided	2020-02-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348030	SCV002623291	likely benign	Cardiovascular phenotype	2023-04-13	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.
Revvity Omics, Revvity	RCV000285599	SCV003832614	uncertain significance	not provided	2021-02-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000285599	SCV003923352	uncertain significance	not provided	2023-02-22	criteria provided, single submitter	clinical testing	Previously reported as heterozygous in an individual with suspected limb girdle muscular dystrophy (Nallamilli et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 27439679, 32906206, 30564623)
PreventionGenetics, part of Exact Sciences	RCV004537622	SCV004745875	likely benign	FKRP-related disorder	2022-09-20	criteria provided, single submitter	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).