ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) (rs200641000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488271 SCV000575030 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Invitae RCV001040182 SCV001203743 uncertain significance Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2019-01-03 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 456 of the TBC1D24 protein (p.Pro456Gln). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is present in population databases (rs200641000, ExAC 0.004%). This variant has not been reported in the literature in individuals with TBC1D24-related conditions. ClinVar contains an entry for this variant (Variation ID: 425089). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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