ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.438+3G>A

dbSNP: rs1183368030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010171 SCV002283831 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2021-05-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TMEM231-related conditions. 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change falls in intron 2 of the TMEM231 gene. It does not directly change the encoded amino acid sequence of the TMEM231 protein. It affects a nucleotide within the consensus splice site of the intron.

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