Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444044 | SCV000532003 | uncertain significance | not specified | 2016-09-28 | criteria provided, single submitter | clinical testing | The T574M variant in the ATP7A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This 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 T574M 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 conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T574M as a variant of uncertain significance. |
Mayo Clinic Laboratories, |
RCV001508048 | SCV001713949 | uncertain significance | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861618 | SCV002148686 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402192 | SCV002714192 | uncertain significance | Inborn genetic diseases | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.1721C>T (p.T574M) alteration is located in exon 7 (coding exon 6) of the ATP7A gene. This alteration results from a C to T substitution at nucleotide position 1721, causing the threonine (T) at amino acid position 574 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001833557 | SCV002089059 | uncertain significance | Menkes kinky-hair syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |