ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter)

gnomAD frequency: 0.00001  dbSNP: rs1466666397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760350 SCV000890210 pathogenic not provided 2018-08-06 criteria provided, single submitter clinical testing The C937X variant in the EYS gene has been reported previously in an individual with autosomal recessive retinitis pigmentosa (Littink et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The C937X variant is observed in 1/23,594 (0.0042%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). We interpret C937X as a pathogenic variant.
Invitae RCV000760350 SCV001226377 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620108). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 20537394). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Cys937*) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770).
Baylor Genetics RCV003461017 SCV004193566 pathogenic Retinitis pigmentosa 25 2022-09-12 criteria provided, single submitter clinical testing

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