ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.439-33_538del

dbSNP: rs2507328871
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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 RCV002801513 SCV003200243 likely pathogenic Joubert syndrome 20; Meckel syndrome, type 11 2024-10-18 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 (c.598-33_697del) of the TMEM231 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 TMEM231 are known to be pathogenic (PMID: 23012439, 23349226). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. ClinVar contains an entry for this variant (Variation ID: 1993591). 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.

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