ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1529G>A (p.Gly510Glu)

dbSNP: rs755880523
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Total submissions: 2
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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 RCV000602370 SCV000713267 uncertain significance not specified 2017-11-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Gly510Glu variant in TBC1D24 has now been reported in trans with a likely pathogenic TBC1 D24 variant in one individual with hearing loss (LMM data). It has been identifi ed in 1/52804 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs755880523). Computational prediction to ols and conservation analysis suggest that the p.Gly510Glu variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, while there is some suspicion for a pathogenic role, the cli nical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM3, PP3.
GeneDx RCV002266992 SCV002549638 uncertain significance not provided 2022-01-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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