ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1379T>C (p.Leu460Ser)

dbSNP: rs1833947279
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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 RCV001039191 SCV001202708 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-12-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FKTN-related conditions. This sequence change replaces leucine with serine at codon 460 of the FKTN protein (p.Leu460Ser). The leucine residue is weakly conserved and there is a large physicochemical difference between leucine and serine.

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