ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)

gnomAD frequency: 0.00008  dbSNP: rs370869383
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378316 SCV000396218 uncertain significance Familial infantile myoclonic epilepsy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000731194 SCV000514857 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731194 SCV000858977 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000431221 SCV000967308 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro475Pro in exon 7 of TBC1D24: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/8406 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV001089436 SCV001005239 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731194 SCV004144813 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TBC1D24: BP4, BP7

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