Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671115 | SCV000796060 | likely pathogenic | Retinitis pigmentosa 26 | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000671115 | SCV000894245 | likely pathogenic | Retinitis pigmentosa 26 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000779293 | SCV000915875 | uncertain significance | Retinitis pigmentosa | 2018-11-04 | criteria provided, single submitter | clinical testing | The CERKL c.1303C>T (p.Arg435Ter) variant is a stop-gained variant that is expected to result in an absent or truncated protein. 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 0.000115 in the African population of the Genome Aggregation Database, but this frequency is based on one allele only in a region of good sequencing coverage. The variant is therefore presumed to be rare. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg435Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV000794851 | SCV000934284 | pathogenic | not provided | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg461*) in the CERKL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CERKL are known to be pathogenic (PMID: 14681825, 23591405, 24043777). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 28559085). ClinVar contains an entry for this variant (Variation ID: 555316). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074698 | SCV001240291 | pathogenic | Retinal dystrophy | 2019-04-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000794851 | SCV001248800 | pathogenic | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000794851 | SCV001447690 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000671115 | SCV004211593 | pathogenic | Retinitis pigmentosa 26 | 2023-04-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671115 | SCV001463762 | pathogenic | Retinitis pigmentosa 26 | 2020-09-16 | no assertion criteria provided | clinical testing |