ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val)

gnomAD frequency: 0.00001  dbSNP: rs771442254
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307263 SCV001496668 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2020-08-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 210 of the TBC1D24 protein (p.Ala210Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs771442254, ExAC 0.01%). This variant has not been reported in the literature in individuals with TBC1D24-related conditions. 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. 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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