Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000196150 | SCV000251104 | uncertain significance | not provided | 2013-12-03 | criteria provided, single submitter | clinical testing | Mutations in the AGK gene are associated with the autosomal recessive disorder Sengers syndrome or myopathic mtDNA depletion syndrome 10. (AAG>AAT): c.186 G>T in exon 4 of the AGK gene (NM_018238.3) A variant of unknown significance has been identified in the AGK gene. The K62N missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a positively charged Lysine residue is replaced by an uncharged Asparagine residue. This change occurs at a highly conserved position in the AGK protein. In-silico analyses predict that K62N is damaging to the AGK protein. Based on the currently available information, it is unclear whether K62N is a disease-causing mutation or a rare benign variant. The variant is found in DEPLTN-MITOP panel(s). |
| Ambry Genetics | RCV002517194 | SCV003608266 | likely benign | Inborn genetic diseases | 2022-02-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |