Submissions for variant NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)

gnomAD frequency: 0.00004  dbSNP: rs146272618

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000380549	SCV000335575	uncertain significance	not provided	2015-09-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000766041	SCV000897480	uncertain significance	Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV001081484	SCV001016616	likely benign	Walker-Warburg congenital muscular dystrophy	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365305	SCV002661760	likely benign	Cardiovascular phenotype	2023-01-23	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000380549	SCV004225074	uncertain significance	not provided	2021-12-28	criteria provided, single submitter	clinical testing	BP4
PreventionGenetics, part of Exact Sciences	RCV003967724	SCV004784852	likely benign	FKTN-related condition	2023-03-24	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).