ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)

gnomAD frequency: 0.00001  dbSNP: rs775366895
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734168 SCV000862290 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001242838 SCV001415953 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-05-18 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FKTN gene (p.Tyr461Ilefs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the FKTN protein and extend the protein by 2 additional amino acid residues. This variant is present in population databases (rs775366895, ExAC 0.004%). This variant has not been reported in the literature in individuals with FKTN-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002386308 SCV002696736 uncertain significance Cardiovascular phenotype 2024-04-25 criteria provided, single submitter clinical testing The c.1380dupA variant, located in coding exon 9 of the FKTN gene, results from a duplication of A at nucleotide position 1380, causing a translational frameshift with a predicted alternate stop codon (p.Y461Ifs*4). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of FKTN, is not expected to trigger nonsense-mediated mRNA decay, and results in the elongation of the protein by 2 amino acids. The exact functional impact of these inserted amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485935 SCV002779070 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 2022-01-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000734168 SCV003832691 uncertain significance not provided 2021-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001242838 SCV002081992 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-12-18 no assertion criteria provided clinical testing

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