ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)

gnomAD frequency: 0.00304  dbSNP: rs202216463
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514560 SCV000514858 benign not provided 2019-04-02 criteria provided, single submitter clinical testing
Invitae RCV001084227 SCV000560539 benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2024-02-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514560 SCV000611010 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000441062 SCV000711548 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala476Asp in exon 7 of TBC1D24: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (38/4142) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs202216463).
Ambry Genetics RCV002318397 SCV000849500 benign Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002506020 SCV002807438 likely benign Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 2021-08-06 criteria provided, single submitter clinical testing

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