ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=)

dbSNP: rs754551693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218340 SCV000270888 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing p.Arg109Arg in exon 2 of TBC1D24: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/16456 South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs754551693).
Invitae RCV000651576 SCV000773430 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417770 SCV004142964 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TBC1D24: BP4, BP7

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