ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.322A>G (p.Arg108Gly)

dbSNP: rs2132707988
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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 RCV001884115 SCV002153425 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 108 of the FKTN protein (p.Arg108Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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