ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)

gnomAD frequency: 0.00001  dbSNP: rs145665129
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201645 SCV000256461 pathogenic Joubert syndrome 7 2015-02-23 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000733537 SCV000861616 pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382825 SCV001581761 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg805*) 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 (rs145665129, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 19574260). ClinVar contains an entry for this variant (Variation ID: 1079). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002490288 SCV002791230 pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2021-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000733537 SCV005324893 pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing Identified in siblings with features consistent with JSRD in published literature (PMID: 19574260, 21866095); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 31589614, 17558409, 32139166, 21866095, 26092869, 19574260, 31964843)
OMIM RCV000001134 SCV000021284 pathogenic COACH syndrome 3 2010-01-01 no assertion criteria provided literature only
Natera, Inc. RCV001831502 SCV002085695 pathogenic Familial aplasia of the vermis 2021-06-24 no assertion criteria provided clinical testing

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