ClinVar Miner

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

dbSNP: rs200641000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488271 SCV000575030 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing TBC1D24: PM2, BP4
Invitae RCV001040182 SCV001203743 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 456 of the TBC1D24 protein (p.Pro456Gln). This variant is present in population databases (rs200641000, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. ClinVar contains an entry for this variant (Variation ID: 425089). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TBC1D24 protein function with a negative predictive value of 95%. 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.
Institute of Human Genetics, University Hospital of Duesseldorf RCV003449256 SCV004177255 uncertain significance Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome criteria provided, single submitter not provided

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