ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1038-6T>G

gnomAD frequency: 0.00001  dbSNP: rs758523904
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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 RCV002005679 SCV002270488 uncertain significance Joubert syndrome 14 2022-09-06 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the TMEM237 gene. It does not directly change the encoded amino acid sequence of the TMEM237 protein. This variant is present in population databases (rs758523904, gnomAD 0.006%). 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: 1484284). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002579618 SCV003549218 uncertain significance Inborn genetic diseases 2021-10-07 criteria provided, single submitter clinical testing The c.1038-6T>G intronic alteration consists of a T to G substitution 6 nucleotides before exon 12 of the TMEM237 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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