Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198833 | SCV000251337 | uncertain significance | not provided | 2016-12-19 | criteria provided, single submitter | clinical testing | The R61W variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R61W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded. |
Invitae | RCV001087445 | SCV001121679 | likely benign | 3-methylglutaconic aciduria type 5 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258694 | SCV003945786 | uncertain significance | Inborn genetic diseases | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.181C>T (p.R61W) alteration is located in exon 4 (coding exon 4) of the DNAJC19 gene. This alteration results from a C to T substitution at nucleotide position 181, causing the arginine (R) at amino acid position 61 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |