ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp)

dbSNP: rs483352866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262528 SCV001440444 likely pathogenic DOORS syndrome 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001880044 SCV002203474 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2021-04-18 criteria provided, single submitter clinical testing 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. 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 expected to disrupt TBC1D24 protein function. This variant has been observed in individual(s) with autosomal recessive TBC1D24-related conditions (PMID: 27281533). ClinVar contains an entry for this variant (Variation ID: 982832). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tryptophan at codon 178 of the TBC1D24 protein (p.Ser178Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan.

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