Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578437 | SCV000680408 | pathogenic | 3-methylglutaconic aciduria type 9 | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002529040 | SCV003616989 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.1024C>T (p.R342W) alteration is located in exon 9 (coding exon 9) of the TIMM50 gene. This alteration results from a C to T substitution at nucleotide position 1024, causing the arginine (R) at amino acid position 342 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |