ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)

dbSNP: rs2135153244
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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 RCV001924057 SCV002199419 pathogenic Joubert syndrome 16 2022-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1424816). This variant has not been reported in the literature in individuals affected with TMEM138-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser28*) in the TMEM138 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM138 are known to be pathogenic (PMID: 26489029).

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