ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile)

dbSNP: rs1831566546
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067602 SCV001232670 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-12-27 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. This variant has not been reported in the literature in individuals with FKTN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 386 of the FKTN protein (p.Thr386Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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