ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)

gnomAD frequency: 0.00002  dbSNP: rs1346912007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441391 SCV002748293 uncertain significance Cardiovascular phenotype 2024-06-26 criteria provided, single submitter clinical testing The c.278C>T (p.T93I) alteration is located in exon 5 (coding exon 3) of the FKTN gene. This alteration results from a C to T substitution at nucleotide position 278, causing the threonine (T) at amino acid position 93 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102218 SCV003500975 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 93 of the FKTN protein (p.Thr93Ile). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239438 SCV005885029 uncertain significance not specified 2024-12-20 criteria provided, single submitter clinical testing

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