Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000219495 | SCV000279223 | uncertain significance | not provided | 2016-01-11 | criteria provided, single submitter | clinical testing | The Q1288R variant in the ATP7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q1288R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q1288R variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q1288R as a variant of uncertain significance. |
Invitae | RCV000693165 | SCV000821022 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354621 | SCV002619994 | likely benign | Inborn genetic diseases | 2021-08-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV000219495 | SCV004165923 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | ATP7A: BS2; PGK1: BS2 |
Natera, |
RCV001274235 | SCV001458108 | uncertain significance | Menkes kinky-hair syndrome | 2020-04-11 | no assertion criteria provided | clinical testing |