Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000367935 | SCV000397838 | uncertain significance | RPGRIP1L-Related Disorders | 2017-04-28 | criteria provided, single submitter | clinical testing | The RPGRIP1L c.697A>T (p.Lys233Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. The p.Lys233Ter variant has been reported in one study in which it is found in one individual with cerebello-oculo-renal syndrome (also known as Joubert syndrome type B) in a compound heterozygous state with a missense variant (Delous et al. 2007). The p.Lys233Ter variant was absent from 260 control chromosomes but is reported at a frequency of 0.00002478 in the total population from the Exome Aggregation Consortium. Due to the potential impact of stop-gained variants and supporting evidence, the p.Lys233Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for RPGRIP1L-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV001385849 | SCV001585843 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys233*) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). This variant is present in population databases (rs121918197, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 17558409). ClinVar contains an entry for this variant (Variation ID: 1068). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001781156 | SCV002019893 | pathogenic | not provided | 2019-09-13 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000001123 | SCV000021273 | pathogenic | Joubert syndrome 7 | 2007-07-01 | no assertion criteria provided | literature only | |
Natera, |
RCV001831499 | SCV002085757 | pathogenic | Familial aplasia of the vermis | 2020-02-20 | no assertion criteria provided | clinical testing |