ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) (rs201649140)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727315 SCV000514861 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24291220)
Invitae RCV001083452 SCV000560548 likely benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2020-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727315 SCV000615751 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727315 SCV000707486 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000444565 SCV000711640 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing p.Val548Met in exon 8 of TBC1D24: This variant is not expected to have clinical significance because it has been identified in 0.4% (48/11428 and 142/36466) of Latino chromosomes including one homozygote by the Exome Aggregation Consortium and the Genome Aggregation Database respectively (ExAC, http://exac.broadinstitu te.org; gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201649140).
Ambry Genetics RCV000717594 SCV000848447 uncertain significance Seizures 2019-06-24 criteria provided, single submitter clinical testing The p.V548M variant (also known as c.1642G>A), located in coding exon 7 of the TBC1D24 gene, results from a G to A substitution at nucleotide position 1642. The valine at codon 548 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Illumina Clinical Services Laboratory,Illumina RCV001120532 SCV001279024 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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