ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) (rs200324356)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720472 SCV000851349 uncertain significance Seizures 2016-11-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000770979 SCV000897964 uncertain significance Deafness, autosomal recessive 86 2018-05-31 criteria provided, single submitter clinical testing This recessive variant was identified in two brothers diagnosed with profound bilateral hearing loss. Both patients harbour also a second variant (see below) in this gene in compound heterozygosity
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000118580 SCV000297066 uncertain significance not specified 2015-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000118580 SCV000243335 likely benign not specified 2018-01-11 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.
Genetic Services Laboratory, University of Chicago RCV000118580 SCV000152986 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661907 SCV000784228 uncertain significance Epileptic encephalopathy, early infantile, 1 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000535912 SCV000654212 likely benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2017-12-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118580 SCV000272474 likely benign not specified 2019-03-01 criteria provided, single submitter clinical testing The p.Arg214His variant in TBC1D24 is classified as likely benign due to its hig h allele frequency. Although it has been reported in trans with a likely pathoge nic variant in two Morroccan probands with hearing loss (2/272 alleles), it was also identified at a similar frequency in a race matched control population (1%, 4/400 chromosomes; Bakhchane 2015). Furthermore, this variant has been reported in several populations by gnomAD with a total allele frequency of 0.1% (271/280 420) and an allele frequency of 0.19% (58/30602) of South Asian chromosomes incl uding 1 homozygote. ACMG/AMP criteria: BS1.

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