Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002441801 | SCV002746646 | uncertain significance | Inborn genetic diseases | 2022-04-07 | criteria provided, single submitter | clinical testing | The p.A94V variant (also known as c.281C>T), located in coding exon 2 of the ATP7A gene, results from a C to T substitution at nucleotide position 281. The alanine at codon 94 is replaced by valine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.002% (3/183165) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.007% (1/13861) of East Asian alleles. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003102753 | SCV003250693 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2023-10-22 | criteria provided, single submitter | clinical testing |