Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270836 | SCV001451604 | uncertain significance | Leigh syndrome | 2019-07-18 | criteria provided, single submitter | clinical testing | The LRPPRC c.2056A>G (p.Ile686Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000012 in the Total population of the Genome Aggregation Database. Based on the limited evidence, the p.Ile686Val variant is classified as a variant of uncertain significance for Leigh syndrome. |