Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000523020 | SCV000620008 | uncertain significance | not provided | 2017-08-09 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the ATP7A gene. The M225V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M225V variant is observed in 1/9264 (0.01%) alleles from individuals of Latino background; of note, this individual was hemizygous for the variant (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). M225V has also been observed in a hemizygous state in multiple unrelated healthy adult males tested at GeneDx. The M225V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Invitae | RCV001079767 | SCV001019489 | likely benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-22 | criteria provided, single submitter | clinical testing |