ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1558G>C (p.Gly520Arg)

dbSNP: rs1555501693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615639 SCV000713837 uncertain significance not specified 2018-01-30 criteria provided, single submitter clinical testing The p.Gly520Arg variant in TBC1D24 has not been previously reported in individua ls with hearing loss, epilepsy, or DOOR syndrome, and was absent from large popu lation studies. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gly520Arg variant is uncertain. ACMG/AMP Criteria applied: PM2; BP4.

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