ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)

gnomAD frequency: 0.00030  dbSNP: rs200213603
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001584774 SCV001813660 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30025130)
Labcorp Genetics (formerly Invitae), Labcorp RCV001584774 SCV002317957 uncertain significance not provided 2024-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 152 of the RP1L1 protein (p.Arg152Gln). This variant is present in population databases (rs200213603, gnomAD 0.06%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 30025130). ClinVar contains an entry for this variant (Variation ID: 1211909). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RP1L1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002476889 SCV002780668 uncertain significance Occult macular dystrophy; Retinitis pigmentosa 88 2022-03-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001584774 SCV003811874 uncertain significance not provided 2020-08-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815574 SCV005072223 uncertain significance Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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