ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9238_9239del (p.Asn3080fs)

dbSNP: rs2149623736
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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 RCV001882132 SCV002166609 pathogenic not provided 2021-04-27 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the EYS protein. Other variant(s) that disrupt this region (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 31074760, 29159838, 30337596). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with EYS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn3080Leufs*2) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the EYS protein. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571551 SCV005060483 likely pathogenic Retinitis pigmentosa 25 2024-02-07 criteria provided, single submitter clinical testing

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