ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)

gnomAD frequency: 0.00007  dbSNP: rs373914077
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189704 SCV000243351 likely benign not provided 2021-04-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24291220)
Invitae RCV000704370 SCV000833316 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000189704 SCV001150739 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399704 SCV002714433 uncertain significance Inborn genetic diseases 2020-03-22 criteria provided, single submitter clinical testing The p.R60W variant (also known as c.178C>T), located in coding exon 1 of the TBC1D24 gene, results from a C to T substitution at nucleotide position 178. The arginine at codon 60 is replaced by tryptophan, an amino acid with dissimilar 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 alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000189704 SCV001742451 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000189704 SCV001968603 uncertain significance not provided no assertion criteria provided clinical testing

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