ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr)

dbSNP: rs1064796021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486623 SCV000572385 likely pathogenic not provided 2021-10-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376364 SCV001573481 uncertain significance Retinitis pigmentosa 25 2021-04-08 criteria provided, single submitter research The EYS c.1274G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Natera, Inc. RCV001376364 SCV002076675 uncertain significance Retinitis pigmentosa 25 2020-02-06 no assertion criteria provided clinical testing

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