ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) (rs142349647)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723738 SCV000202514 uncertain significance not provided 2015-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000153059 SCV000714462 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000284497 SCV000397802 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327884 SCV000397803 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384916 SCV000397804 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000200834 SCV000255015 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2015-03-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 747 of the RPGRIP1L protein (p.Arg747Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant has been reported in the literature and is present in population databases (rs142349647, 0.2%). Clinvar contains an entry for this variant (RCV000153059). This variant was reported in an individual affected with retinitis pigmentosa (PMID: 22334370). Segregation studies have not been reported for this variant. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. It has been reported in an affected individual, but its clinical significance remains unknown. Therefore, it has been classified as a Variant of Uncertain Significance.

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