ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)

gnomAD frequency: 0.00002  dbSNP: rs751517725
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201592 SCV000256506 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002503793 SCV002813877 pathogenic COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-02-01 criteria provided, single submitter clinical testing
Invitae RCV002515477 SCV003476422 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg764*) in the TMEM67 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869, 27434533). ClinVar contains an entry for this variant (Variation ID: 217717). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003128594 SCV003805498 pathogenic not provided 2023-02-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34853893, 32000717, 26092869, 27434533)
Mayo Clinic Laboratories, Mayo Clinic RCV003128594 SCV004226796 pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing PM2_supporting, PM3, PVS1

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