ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7842C>A (p.Cys2614Ter)

gnomAD frequency: 0.00001  dbSNP: rs374494800
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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 RCV001381530 SCV001579970 pathogenic not provided 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2614*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1069602). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462977 SCV004195207 likely pathogenic Retinitis pigmentosa 25 2023-08-22 criteria provided, single submitter clinical testing

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