Submissions for variant NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)

dbSNP: rs886042778

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000398696	SCV000336520	pathogenic	not provided	2015-10-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000559941	SCV000630816	pathogenic	Walker-Warburg congenital muscular dystrophy	2024-01-04	criteria provided, single submitter	clinical testing	This sequence change results in a frameshift in the FKTN gene (p.Pro440Leufs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the FKTN protein and extend the protein by 5 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This frameshift has been observed in individual(s) with left ventricular noncompaction (PMID: 28798025). This variant is also known as 9:108397472 G>GCT. This variant results in an extension of the FKTN protein. Other variant(s) that result in a similarly extended protein product (p.Asp455Metfs*12) have been determined to be pathogenic (PMID: 17044012). This suggests that these extensions are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV004567829	SCV005057808	likely pathogenic	Dilated cardiomyopathy 1X	2024-02-21	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000559941	SCV002081987	uncertain significance	Walker-Warburg congenital muscular dystrophy	2020-04-01	no assertion criteria provided	clinical testing