ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)

gnomAD frequency: 0.00001  dbSNP: rs769957689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400090 SCV000333775 pathogenic not provided 2015-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487195 SCV002787855 likely pathogenic COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2021-12-03 criteria provided, single submitter clinical testing
Invitae RCV002518850 SCV003512559 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser288*) 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 (rs769957689, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. ClinVar contains an entry for this variant (Variation ID: 282355). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000400090 SCV003924744 likely pathogenic not provided 2023-05-14 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)

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