ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val)

dbSNP: rs1274130724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218681 SCV001390575 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-06-13 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. ClinVar contains an entry for this variant (Variation ID: 947578). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 140 of the TBC1D24 protein (p.Leu140Val).
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001799518 SCV001739316 uncertain significance Autosomal dominant nonsyndromic hearing loss 65 2020-10-19 criteria provided, single submitter clinical testing This variant was identified in a female with postlingual bilaterate moderate and progressive hearing loss

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