ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) (rs778752557)

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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 RCV000176625 SCV000228313 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Counsyl RCV000673071 SCV000798239 uncertain significance Retinitis pigmentosa 25 2018-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000176625 SCV000885392 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing The EYS c.4402G>C; p.Asp1468His variant (rs778752557) is reported in the medical literature in two individuals with retinitis pigmentosa, one of whom carried an alternative molecular explanation for disease (Ge 2015, Wang 2014). The variant is described in the ClinVar database (Variation ID: 195938) and is listed in the Genome Aggregation Database with an allele frequency of 0.2% (30/16324 alleles) in the African population. The aspartic acid at codon 1468 is moderately conserved and computational analyses (SIFT: Tolerated, PolyPhen-2: Possibly damaging) predict conflicting effects of this variant on protein structure/function. Although there is information indicating this variant may be likely benign, there is insufficient evidence to classify the variant with certainty. Pathogenic EYS variants are causative for autosomal recessive retinitis pigmentosa (MIM: 602772). References: Ge Z et al. NGS-based Molecular diagnosis of 105 eyeGENE probands with Retinitis Pigmentosa. Sci Rep. 2015 Dec 15;5:18287. Wang J et al. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23.

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