ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.413G>T (p.Arg138Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV004556137 SCV005045268 uncertain significance Joubert syndrome 6 2024-05-22 criteria provided, single submitter curation The homozygous p.Arg138Ile variant in TMEM67 was identified by our study in one individual with Joubert syndrome 6. The variant has not been previously reported in individuals with Joubert syndrome 6, and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly211Cys variant is uncertain. ACMG/AMP Criteria applied: PM3_Supporting, PM2_Supporting, PP3_Moderate (Richards 2015).

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