ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1328dup (p.Asn443fs)

dbSNP: rs1582176424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987734 SCV001137173 pathogenic Retinitis pigmentosa 25 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549685 SCV002999363 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn443Lysfs*30) 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. ClinVar contains an entry for this variant (Variation ID: 802241). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000987734 SCV004193523 likely pathogenic Retinitis pigmentosa 25 2024-03-12 criteria provided, single submitter clinical testing

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