ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)

gnomAD frequency: 0.00001  dbSNP: rs1554972406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV001787344 SCV000797276 uncertain significance Joubert syndrome 2; Meckel syndrome, type 2 2018-01-18 criteria provided, single submitter clinical testing
Invitae RCV002531310 SCV003514001 uncertain significance Familial aplasia of the vermis 2022-08-16 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the TMEM216 mRNA. The next in-frame methionine is located at codon 8. This variant is not present in population databases (gnomAD no frequency). 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: 556222). 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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