Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV005229519 | SCV005870918 | uncertain significance | Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | criteria provided, single submitter | clinical testing | The missesne c.952A>G(p.Asn318Asp) variant in POLG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Aspargine at position 318 is changed to a Aspartate changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance. |