ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)

dbSNP: rs767384710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412190 SCV000487520 likely pathogenic Meckel syndrome, type 2 2016-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000410198 SCV000487521 likely pathogenic Joubert syndrome 2 2016-02-22 criteria provided, single submitter clinical testing
Invitae RCV002523886 SCV003209717 pathogenic Familial aplasia of the vermis 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly77Trpfs*16) in the TMEM216 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM216 are known to be pathogenic (PMID: 20512146). This variant is present in population databases (rs767384710, gnomAD 0.0009%). 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: 371710). For these reasons, this variant has been classified as Pathogenic.

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