ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) (rs201652272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174710 SCV000226064 uncertain significance not provided 2014-08-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342934 SCV000464461 uncertain significance Retinitis pigmentosa 2016-08-27 criteria provided, single submitter clinical testing The EYS c.2234A>G (p.Asn745Ser) variant is a missense variant that has been reported in four studies and identified in a compound heterozygous state with a stop-gained variant in two siblings with autosomal recessive retinitis pigmentosa and in one individual with cone and cone-rod dystrophy as well as in a heterozygous state in two individuals with retinitis pigmentosa in whom a second variant could not be found (Audo et al. 2010; Barragan et al. 2010; Pieras et al. 2011; Boulanger-Scemama et al. 2015). The p.Asn745Ser variant was absent from 728 controls and is reported at a frequency of 0.00134 in the African population of the Exome Aggregation Consortium. Based on the evidence, the p.Asn745Ser variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Human Genetics - Radboudumc,Radboudumc RCV000678566 SCV000804645 uncertain significance Retinitis pigmentosa 25 2016-09-01 no assertion criteria provided clinical testing

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