ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038201 SCV001201662 uncertain significance Joubert syndrome 14 2019-12-17 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TMEM237 gene (p.Ala406Profs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acids of the TMEM237 protein and extend the protein by an additional 8 amino acids. This variant is present in population databases (rs761770686, ExAC 0.07%). This variant has not been reported in the literature in individuals with TMEM237-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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