ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.488T>A (p.Ile163Asn)

dbSNP: rs1828461999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225108 SCV001397344 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 163 of the FKTN protein (p.Ile163Asn). The isoleucine residue is weakly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.
Natera, Inc. RCV001225108 SCV002079576 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-06-18 no assertion criteria provided clinical testing

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