ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.35-13_36del

dbSNP: rs1057520085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000436026 SCV000510840 likely pathogenic not provided 2017-01-09 criteria provided, single submitter clinical testing
Invitae RCV001851024 SCV002312171 likely pathogenic Familial aplasia of the vermis 2023-04-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 376902). This variant has not been reported in the literature in individuals affected with TMEM216-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant results in the deletion of part of exon 2 (c.35-13_36del) 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).
Baylor Genetics RCV001828393 SCV004206200 likely pathogenic Joubert syndrome 2 2023-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828393 SCV002091642 likely pathogenic Joubert syndrome 2 2021-07-08 no assertion criteria provided clinical testing

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