ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.1257A>G (p.Ter419Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036036 SCV001199380 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2019-02-25 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the SLC25A46 mRNA. It is expected to extend the length of the SLC25A46 protein by 8 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC25A46-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.

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