ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1545G>A (p.Ala515=)

gnomAD frequency: 0.00001  dbSNP: rs747350771
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Total submissions: 2
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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 RCV000213116 SCV000270884 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Ala515Ala in exon 8 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 3/104671 chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
Invitae RCV003765379 SCV004572626 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-07-09 criteria provided, single submitter clinical testing

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