ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1766+2598del

gnomAD frequency: 0.00009  dbSNP: rs765911767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670483 SCV000795339 uncertain significance Retinitis pigmentosa 25 2017-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403558 SCV004105595 uncertain significance EYS-related disorder 2023-04-04 criteria provided, single submitter clinical testing The EYS c.1802delA variant is predicted to result in a frameshift and premature protein termination (p.Gln601Argfs*4). This variant is located in a noncoding region within the canonical EYS transcript (NM_001142800.2:c.1766+2598del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-66042274-CT-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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