Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270837 | SCV001451605 | uncertain significance | Leigh syndrome | 2019-07-18 | criteria provided, single submitter | clinical testing | The LRPPRC c.1921-7A>G variant is a splice region variant. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is reported at a frequency of 0.000008 in the Total population of the Genome Aggregation Database, though this is based on only two alleles in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the c.1921-7A>G variant is classified as a variant of uncertain significance for Leigh syndrome. |