ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)

dbSNP: rs780667159
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989177 SCV001139397 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001382205 SCV001580864 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438163). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 28041643, 30576320). This variant is present in population databases (rs780667159, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg981*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).
Genome-Nilou Lab RCV001261192 SCV002045253 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800715 SCV002045264 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV000504726 SCV004030317 pathogenic Leber congenital amaurosis 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504726 SCV000599101 likely pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261192 SCV001438593 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV001261192 SCV003927946 pathogenic Leber congenital amaurosis 6 2023-04-01 no assertion criteria provided clinical testing

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