ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.42+1G>A

gnomAD frequency: 0.00005  dbSNP: rs1378726802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335600 SCV001528783 likely pathogenic Joubert syndrome 14 criteria provided, single submitter clinical testing
Invitae RCV001335600 SCV002249344 likely pathogenic Joubert syndrome 14 2023-07-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the TMEM237 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMEM237 are known to be pathogenic (PMID: 22152675). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TMEM237-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033245). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV001335600 SCV003825398 uncertain significance Joubert syndrome 14 2020-08-13 criteria provided, single submitter clinical testing
GeneDx RCV003329402 SCV004036282 likely pathogenic not provided 2023-03-21 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; 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: 31964843)

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