ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) (rs766745103)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189673 SCV000243319 benign not specified 2014-10-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000189673 SCV000270894 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing p.Thr317Thr 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 13/265438 total chromosomes in different populations by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs766745103).
Illumina Clinical Services Laboratory,Illumina RCV000397672 SCV000396210 uncertain significance Myoclonic epilepsy, familial infantile 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.
Invitae RCV000651581 SCV000773435 likely benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719197 SCV000850063 likely benign Seizures 2017-11-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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