ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=)

gnomAD frequency: 0.00011  dbSNP: rs755794991
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517453 SCV000615755 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316472 SCV000851273 likely benign Inborn genetic diseases 2016-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000863886 SCV001004615 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001591173 SCV001826107 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
PreventionGenetics, part of Exact Sciences RCV003960227 SCV004776928 likely benign TBC1D24-related condition 2023-04-25 criteria provided, single submitter 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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