ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.461G>A (p.Arg154His)

gnomAD frequency: 0.00059  dbSNP: rs147966742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691451 SCV000819229 uncertain significance Joubert syndrome 16 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 154 of the TMEM138 protein (p.Arg154His). This variant is present in population databases (rs147966742, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with TMEM138-related conditions. ClinVar contains an entry for this variant (Variation ID: 570566). 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV000691451 SCV005683824 likely benign Joubert syndrome 16 2024-02-21 criteria provided, single submitter clinical testing
GeneDx RCV005223123 SCV005870574 uncertain significance not provided 2024-08-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22282472)

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