ClinVar Miner

Submissions for variant NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)

gnomAD frequency: 0.00002  dbSNP: rs104894187
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175649 SCV000227178 uncertain significance not provided 2015-06-25 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626831 SCV000747534 uncertain significance Cone dystrophy 2017-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175649 SCV001202194 uncertain significance not provided 2024-06-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 66 of the RGR protein (p.Ser66Arg). This variant is present in population databases (rs104894187, gnomAD 0.007%). This missense change has been observed in individual(s) with RGR-related conditions (PMID: 27623334, 30337596, 32531858, 34229535). ClinVar contains an entry for this variant (Variation ID: 9181). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000009759 SCV001370118 uncertain significance Retinitis pigmentosa 44 2019-02-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP5.
GeneDx RCV000175649 SCV001986231 uncertain significance not provided 2020-09-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27623334, 10581022, 21067480, 30337596)
Institute of Human Genetics, University of Leipzig Medical Center RCV000009759 SCV002072559 likely pathogenic Retinitis pigmentosa 44 2022-01-20 criteria provided, single submitter clinical testing This variant was identified as homozygous. Another variant (NM_033100.4:c.2522_2528del) was found in the same patient. Criteria applied: PS4_MOD, PM3, PM2_SUP, PP3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814868 SCV005072337 uncertain significance Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
OMIM RCV000009759 SCV000029980 pathogenic Retinitis pigmentosa 44 1999-12-01 no assertion criteria provided literature only

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