ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)

dbSNP: rs1555501320
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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 RCV002526008 SCV003316996 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-09-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 425556). This missense change has been observed in individuals with deafness (PMID: 33281559). It has also been observed to segregate with disease in related individuals. This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 307 of the TBC1D24 protein (p.Asn307His).
Genetics, Medical University of Vienna RCV000578091 SCV000575876 likely pathogenic Autosomal dominant nonsyndromic hearing loss 65 no assertion criteria provided clinical testing

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