ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.*63C>T (rs1174214039)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813243 SCV000953594 uncertain significance Charcot-Marie-Tooth disease, type 1C 2018-08-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the LITAF gene (p.Gln142*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acids of the LITAF protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LITAF-related disease. 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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