ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.461G>A (p.Arg154His) (rs147966742)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691451 SCV000819229 uncertain significance Joubert syndrome 16 2018-04-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 154 of the TMEM138 protein (p.Arg154His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TMEM138-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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