ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter) (rs746386202)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703666 SCV000832576 pathogenic Charcot-Marie-Tooth disease, axonal, type 2R 2018-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser239*) in the TRIM2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TRIM2-related disease. Loss-of-function variants in TRIM2 are known to be pathogenic (PMID: 23562820). For these reasons, this variant has been classified as Pathogenic.

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