ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.164G>T (p.Trp55Leu)

dbSNP: rs1826858068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244747 SCV001417990 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-12-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 55 of the FKTN protein (p.Trp55Leu). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 969407).

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