ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.770+3A>G

dbSNP: rs2080625882
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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 RCV001349461 SCV001543806 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2020-10-21 criteria provided, single submitter clinical testing This sequence change falls in intron 5 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMEM231-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.

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