ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.511C>T (p.Gln171Ter)

gnomAD frequency: 0.00002  dbSNP: rs747865323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390531 SCV001592273 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln171*) 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 (rs747865323, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076583). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005038210 SCV005672769 likely pathogenic Retinitis pigmentosa 25 2024-06-15 criteria provided, single submitter clinical testing

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