ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.643T>G (p.Trp215Gly)

gnomAD frequency: 0.00001  dbSNP: rs761347854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000770980 SCV000897965 uncertain significance Autosomal recessive nonsyndromic hearing loss 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 patient harbours also a second variant (see above) in this gene in compound heterozygosity
Ambry Genetics RCV002360880 SCV002658718 uncertain significance Inborn genetic diseases 2019-08-28 criteria provided, single submitter clinical testing The p.W215G variant (also known as c.643T>G), located in coding exon 1 of the TBC1D24 gene, results from a T to G substitution at nucleotide position 643. The tryptophan at codon 215 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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