ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.-4C>T

dbSNP: rs202124579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175682 SCV000227217 uncertain significance not provided 2015-02-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374205 SCV000396198 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826047 SCV000967540 uncertain significance not specified 2018-09-06 criteria provided, single submitter clinical testing The c.-4C>T variant in TBC1D24 has not been previously reported in individuals w ith hearing loss, DOOR syndrome, or epilepsy, but has been identified in 0.017% (3/17226) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). This variant has also been reported in ClinVa r (Variation ID 195133). This variant is located in the 5' untranslated region, and it is unknown whether it affects protein function. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: none.

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