ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.943+1G>T (rs748510210)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000024183 SCV000256488 pathogenic Joubert syndrome 14 2015-02-23 criteria provided, single submitter research
Invitae RCV000024183 SCV001412889 pathogenic Joubert syndrome 14 2020-03-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 of the TMEM237 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs748510210, ExAC 0.003%). This variant has been observed in individual(s) with Joubert syndrome (PMID: 22152675). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 31184). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMEM237 are known to be pathogenic (PMID: 22152675). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Lab, University of California San Francisco RCV000024183 SCV001572993 pathogenic Joubert syndrome 14 2020-06-18 criteria provided, single submitter clinical testing
OMIM RCV000024183 SCV000045474 pathogenic Joubert syndrome 14 2011-12-09 no assertion criteria provided literature only

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