ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)

gnomAD frequency: 0.00001  dbSNP: rs745413543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199008 SCV001370003 likely pathogenic Joubert syndrome 7 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001241219 SCV001414224 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg602*) 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 (rs745413543, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 931963). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509625 SCV002819317 pathogenic Joubert syndrome and related disorders 2024-11-13 criteria provided, single submitter clinical testing Variant summary: RPGRIP1L c.1804C>T (p.Arg602X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2e-05 in 250176 control chromosomes. To our knowledge, no occurrence of c.1804C>T in individuals affected with Joubert Syndrome And Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 931963). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012592 SCV005642092 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-04-23 criteria provided, single submitter clinical testing

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