ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)

gnomAD frequency: 0.00008  dbSNP: rs374381691
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068138 SCV001233228 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-09-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 368 of the FKTN protein (p.Phe368Leu). This variant is present in population databases (rs374381691, gnomAD 0.04%). ClinVar contains an entry for this variant (Variation ID: 861579). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FKTN protein function. 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 RCV002429730 SCV002742500 uncertain significance Cardiovascular phenotype 2023-05-24 criteria provided, single submitter clinical testing The p.F368L variant (also known as c.1102T>C), located in coding exon 8 of the FKTN gene, results from a T to C substitution at nucleotide position 1102. The phenylalanine at codon 368 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002497472 SCV002812735 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 2021-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001068138 SCV002081965 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-06-15 no assertion criteria provided clinical testing

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