ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) (rs121918197)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina 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.
OMIM RCV000001123 SCV000021273 pathogenic Joubert syndrome 7 2007-07-01 no assertion criteria provided literature only

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