Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200402 | SCV000252121 | uncertain significance | not provided | 2017-01-24 | criteria provided, single submitter | clinical testing | The D473N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The 1000 Genomes Project Consortium reports D473N was observed in 0.6% to 1.7% of alleles from individuals of South Asian background. The D473N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Genomic Research Center, |
RCV000625913 | SCV000746496 | likely benign | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001847881 | SCV002104899 | likely benign | Hereditary spastic paraplegia | 2021-09-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000200402 | SCV002382622 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000200402 | SCV003811689 | uncertain significance | not provided | 2020-11-13 | criteria provided, single submitter | clinical testing |