Submissions for variant NM_001079802.2(FKTN):c.357A>G (p.Leu119=)

gnomAD frequency: 0.00001  dbSNP: rs760933616

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727371	SCV000707961	uncertain significance	not provided	2017-04-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000595119	SCV000727651	likely benign	not specified	2018-02-19	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083865	SCV001011024	likely benign	Walker-Warburg congenital muscular dystrophy	2024-12-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002460093	SCV002618068	likely benign	Cardiovascular phenotype	2020-01-22	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000595119	SCV006072247	likely benign	not specified	2025-03-08	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001083865	SCV002079561	likely benign	Walker-Warburg congenital muscular dystrophy	2020-03-19	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530711	SCV004727755	likely benign	FKTN-related disorder	2022-07-06	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).