ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) (rs267607017)

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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 RCV000726920 SCV000704172 likely pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000002277 SCV000916218 uncertain significance Occult macular dystrophy 2017-08-22 criteria provided, single submitter clinical testing The RP1L1 c.133C>T (p.Arg45Trp) missense variant has been reported in at least six studies and is found in a heterozygous state in a total of 35 individuals with occult macular dystrophy, including 15 unrelated individuals. The variant is also found in 13 unaffected family members (Akahori et al. 2010; Okuno et al. 2013; Hayashi et al. 2012; Davidson et al. 2013; Piermarocchi et al. 2016; Fujinami al. 2016). Due to the presence of both affected and unaffected family members carrying the p.Arg45Trp variant in a heterozygous state, Akahori et al. (2010) and Davidson et al. (2013) suggest that the variant may exhibit reduced penetrance or later age of onset in asymptomatic carriers. The p.Arg45Trp variant was absent from 976 controls but is reported at a frequency of 0.000025 in the total population of the Genome Aggregation Database. Based on the evidence, the p.Arg45Trp variant is classified a variant of unknown significance but suspicious for pathogenicity for occult macular dystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Blueprint Genetics RCV001074376 SCV001239954 pathogenic Retinal dystrophy 2019-07-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726920 SCV001245752 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197672 SCV001368451 pathogenic Visual impairment; Nyctalopia; Retinal pigment epithelial atrophy; Color vision test abnormality 2019-12-03 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in heterozygous state.
OMIM RCV000002277 SCV000022435 risk factor Occult macular dystrophy 2013-03-01 no assertion criteria provided literature only

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