Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001404689 | SCV001606597 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332942 | SCV002631550 | uncertain significance | Inborn genetic diseases | 2020-12-14 | criteria provided, single submitter | clinical testing | The p.R1423W variant (also known as c.4267C>T), located in coding exon 22 of the ATP7A gene, results from a C to T substitution at nucleotide position 4267. The arginine at codon 1423 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and tryptophan is the reference amino acid in other vertebrate species. Based on data from gnomAD, the T allele has an overall frequency of 0.0034% (7/205335) total alleles studied, with 3 hemizygotes observed. The highest observed frequency was 0.013% (2/14850) of East Asian alleles. 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. |
Natera, |
RCV001277502 | SCV001464461 | likely benign | Menkes kinky-hair syndrome | 2020-10-27 | no assertion criteria provided | clinical testing |