Submissions for variant NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)

dbSNP: rs1564284467

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000760654	SCV000890546	likely pathogenic	not provided	2018-07-24	criteria provided, single submitter	clinical testing	The W120X variant in the FKTN gene has not been reported as a pathogenic or benign to our knowledge. This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the FKTN gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the W120X variant is not observed in large population cohorts (Lek et al., 2016). In summary, W120X in the FKTN gene is interpreted as a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001855930	SCV002134623	pathogenic	Walker-Warburg congenital muscular dystrophy	2021-11-01	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620289). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp120*) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264).