ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.1373dup (p.Pro459fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796743 SCV000936268 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro459Alafs*36) in the TMEM67 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 TMEM67-related disease. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449). For these reasons, this variant has been classified as Pathogenic.

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