Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001563571 | SCV001786541 | uncertain significance | not provided | 2021-02-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002405249 | SCV002708724 | uncertain significance | Inborn genetic diseases | 2014-07-25 | criteria provided, single submitter | clinical testing | The p.V521M variant (also known as c.1561G>A), located in coding exon 5 of the ATP7A gene, results from a G to A substitution at nucleotide position 1561. The valine at codon 521 is replaced by methionine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs139902461. Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0% (0/503) total male alleles studied.. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele was absent out of 2440 total male alleles studied. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Invitae | RCV002569018 | SCV003302853 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001836449 | SCV002089055 | uncertain significance | Menkes kinky-hair syndrome | 2020-09-24 | no assertion criteria provided | clinical testing |