Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001093109 | SCV001249935 | pathogenic | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001095734 | SCV001251575 | likely pathogenic | Posterior column ataxia-retinitis pigmentosa syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | The FLVCR1 c.755delG (p.Gly252AlafsTer8) variant results in a frameshift and is expected to result in premature termination of the protein. The variant has been reported in two studies in which it is found in a compound heterozygous state in three individuals with atypical forms of retinitis pigmentosa with the same splice variant on the second allele (Glockle et al. 2014; Kuehlewein et al. 2019). Control data are unavailable for this variant which is found at a frequency of 0.000035 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the expected truncating nature of the variant, presence at a low frequency in population databases and in at least three affected individuals in the literature, the p.Gly252AlafsTer8 variant is classified as likely pathogenic for posterior column ataxia with retinitis pigmentosa. |
Institute of Medical Genetics and Applied Genomics, |
RCV001093109 | SCV001447661 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing |