ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)

gnomAD frequency: 0.00160  dbSNP: rs200926225
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001535427 SCV000243315 likely benign not provided 2020-07-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24291220)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000189669 SCV000269863 benign not specified 2016-02-09 criteria provided, single submitter clinical testing p.Gly165Ser in exon 2 of TBC1D24: This variant is not expected to have clinical significance because it has been identified in 0.5% (51/9574) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200926225).
Labcorp Genetics (formerly Invitae), Labcorp RCV000466794 SCV000560540 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2025-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660402 SCV000782484 uncertain significance Developmental and epileptic encephalopathy, 16 2016-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314766 SCV000847531 likely benign Inborn genetic diseases 2018-10-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004553038 SCV004725667 likely benign TBC1D24-related disorder 2021-01-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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