Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002455503 | SCV002736073 | uncertain significance | Inborn genetic diseases | 2021-11-09 | criteria provided, single submitter | clinical testing | The p.I822V variant (also known as c.2464A>G), located in coding exon 10 of the ATP7A gene, results from an A to G substitution at nucleotide position 2464. The isoleucine at codon 822 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on data from gnomAD, the G allele has an overall frequency of 0.0005%% (1/182480) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.001% (1/81716) of non-Finnish European alleles. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003101848 | SCV003467397 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-07-01 | criteria provided, single submitter | clinical testing |