ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.118_119del (p.Phe40fs)

dbSNP: rs2135190154
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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 RCV001954494 SCV002195025 pathogenic Familial aplasia of the vermis 2020-11-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with TMEM216-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Phe40Hisfs*5) 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).

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