ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs)

dbSNP: rs2150313758
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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 RCV001386384 SCV001586577 pathogenic not provided 2023-08-04 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: 1073395). This sequence change creates a premature translational stop signal (p.Asp546Valfs*63) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions.
Baylor Genetics RCV003463015 SCV004193532 likely pathogenic Retinitis pigmentosa 25 2023-02-16 criteria provided, single submitter clinical testing

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