ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.602A>G (p.His201Arg)

dbSNP: rs1011260787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762421 SCV000892736 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563748 SCV001786757 uncertain significance Retinitis pigmentosa 25 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV000762421 SCV003467359 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 201 of the EYS protein (p.His201Arg). 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: 624255). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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