Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001095735 | SCV001251576 | uncertain significance | Posterior column ataxia-retinitis pigmentosa syndrome | 2020-01-14 | criteria provided, single submitter | clinical testing | The FLVCR1 c.1019C>T (p.Thr340Ile) 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. The p.Thr340Ile variant is reported at a frequency of 0.00001764 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Thr340Ile variant is classified as a variant of unknown significance for posterior column ataxia with retinitis pigmentosa. |
Gene |
RCV001760068 | SCV001991245 | uncertain significance | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36917984) |
Ce |
RCV001760068 | SCV002585178 | uncertain significance | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing |