ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338005 SCV004048508 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2M criteria provided, single submitter clinical testing The missense variant p.I419N in FKTN (NM_001079802.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.I419N variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a large physicochemical difference between isoleucine and asparagine, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. The p.I419N missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.1256 in FKTN is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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