ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)

gnomAD frequency: 0.00036  dbSNP: rs568253718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733750 SCV000861847 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239619 SCV001412505 uncertain significance Familial aplasia of the vermis 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 38 of the TMEM216 protein (p.Glu38Gly). This variant is present in population databases (rs568253718, gnomAD 0.1%). 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: 597583). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
PreventionGenetics, part of Exact Sciences RCV004535871 SCV004115370 uncertain significance TMEM216-related disorder 2022-09-13 criteria provided, single submitter clinical testing The TMEM216 c.113A>G variant is predicted to result in the amino acid substitution p.Glu38Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-61160781-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005049676 SCV005683839 uncertain significance Joubert syndrome 2; Meckel syndrome, type 2 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279269 SCV001466352 uncertain significance Joubert syndrome 2 2020-04-14 no assertion criteria provided clinical testing

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