ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037051 SCV001200445 uncertain significance Joubert syndrome 14 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 98 of the TMEM237 protein (p.Thr98Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMEM237-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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