Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236093 | SCV000292764 | uncertain significance | not specified | 2015-12-22 | criteria provided, single submitter | clinical testing | The I1189V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The I1189V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
Invitae | RCV000878391 | SCV001021290 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277594 | SCV002566323 | uncertain significance | Ehlers-Danlos syndrome | 2021-02-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450722 | SCV002613130 | uncertain significance | Inborn genetic diseases | 2020-03-18 | criteria provided, single submitter | clinical testing | The p.I1189V variant (also known as c.3565A>G), located in coding exon 17 of the ATP7A gene, results from an A to G substitution at nucleotide position 3565. The isoleucine at codon 1189 is replaced by valine, an amino acid with highly similar 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. |