Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000990914 | SCV001141967 | likely pathogenic | Deafness dystonia syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002372711 | SCV002690702 | likely pathogenic | Inborn genetic diseases | 2016-04-11 | criteria provided, single submitter | clinical testing | The p.C43R variant (also known as c.127T>C), located in coding exon 1 of the TIMM8A gene, results from a T to C substitution at nucleotide position 127. The cysteine at codon 43 is replaced by arginine, an amino acid with highly dissimilar properties. This variant disrupts a known motif that is conserved across both orthologues and paralogues and has been shown to be crucial to proper protein function. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |