ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)

dbSNP: rs902145121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993335 SCV002234447 pathogenic Joubert syndrome 14 2021-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg59*) in the TMEM237 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM237 are known to be pathogenic (PMID: 22152675). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TMEM237-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001993335 SCV005654486 likely pathogenic Joubert syndrome 14 2024-04-23 criteria provided, single submitter clinical testing

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