ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)

gnomAD frequency: 0.00001  dbSNP: rs751309268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201716 SCV000256499 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002500632 SCV002813841 pathogenic COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2021-12-08 criteria provided, single submitter clinical testing
Invitae RCV003765305 SCV004569722 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys100*) 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 (rs751309268, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with TMEM67-related conditions (PMID: 19574260, 26092869). ClinVar contains an entry for this variant (Variation ID: 217712). For these reasons, this variant has been classified as Pathogenic.

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