ClinVar Miner

Submissions for variant NM_001142800.1(EYS):c.2137+1G>A (rs199740930)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000484533 SCV000575481 likely pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000763559 SCV000894390 likely pathogenic Retinitis pigmentosa 25 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000484533 SCV000570389 likely pathogenic not provided 2017-02-13 criteria provided, single submitter clinical testing The c.2137+1G>A variant in the EYS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 13. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.2137+1G>A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2137+1G>A as a likely pathogenic variant.
Illumina Clinical Services Laboratory,Illumina RCV000779518 SCV000916162 uncertain significance Retinitis pigmentosa 2018-11-21 criteria provided, single submitter clinical testing The EYS c.2137+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. The c.2137+1G>A variant is reported in one study and found in a homozygous state in one individual affected with retinitis pigmentosa (McGuigan et al. 2017). Control data are unavailable for this variant, which is reported at a frequency of 0.008908 in the Ashkenazi Jewish population of the Genome Aggregation Database and includes one homozygote. Based on the limited evidence and the potential impact of splice donor variants, the c.2137+1G>A variant was classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000779518 SCV000926571 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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