ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5834del (p.Lys1945fs)

dbSNP: rs774455587
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387158 SCV001587711 pathogenic not provided 2024-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1945Serfs*42) 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). This variant is present in population databases (rs774455587, gnomAD 0.05%). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 20333770, 28704921). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1074003). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001826173 SCV004192913 pathogenic Retinitis pigmentosa 25 2024-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001826173 SCV005670590 pathogenic Retinitis pigmentosa 25 2024-05-24 criteria provided, single submitter clinical testing
GeneDx RCV001387158 SCV005689862 pathogenic not provided 2021-09-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32728228, 32141364, 28704921, 31964843, 20333770)
Natera, Inc. RCV001826173 SCV002084340 pathogenic Retinitis pigmentosa 25 2020-08-17 no assertion criteria provided clinical testing

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