ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)

dbSNP: rs267607103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851500 SCV002242039 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-02-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs267607103, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects TBC1D24 function (PMID: 20727515). 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: 48). This missense change has been observed in individual(s) with autosomal recessive familial infantile myoclonic epilepsy (PMID: 20727515). It has also been observed to segregate with disease in related individuals. This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 147 of the TBC1D24 protein (p.Asp147His).
OMIM RCV000000065 SCV000020208 pathogenic Familial infantile myoclonic epilepsy 2010-09-10 no assertion criteria provided literature only
Division of Medical Genetics; Sainte-Justine Hospital RCV000000065 SCV000211971 pathogenic Familial infantile myoclonic epilepsy 2014-12-22 no assertion criteria provided literature only

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