ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.35-2A>G

gnomAD frequency: 0.00002  dbSNP: rs1057517528
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409368 SCV000487735 likely pathogenic Meckel syndrome, type 2 2016-10-05 criteria provided, single submitter clinical testing
Counsyl RCV000410496 SCV000487736 likely pathogenic Joubert syndrome 2 2016-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524628 SCV003020640 likely pathogenic Familial aplasia of the vermis 2023-11-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the TMEM216 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 TMEM216 are known to be pathogenic (PMID: 20512146). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TMEM216-related conditions. ClinVar contains an entry for this variant (Variation ID: 371778). 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.
Baylor Genetics RCV000410496 SCV005054320 likely pathogenic Joubert syndrome 2 2023-11-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049540 SCV005683836 likely pathogenic Joubert syndrome 2; Meckel syndrome, type 2 2024-05-24 criteria provided, single submitter clinical testing
OMIM RCV004776284 SCV005387592 pathogenic Retinitis pigmentosa 98 2024-10-29 no assertion criteria provided literature only

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