ClinVar Miner

Submissions for variant NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)

dbSNP: rs121434621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479007 SCV000566961 pathogenic not provided 2019-07-19 criteria provided, single submitter clinical testing One of the most common pathogenic variants associated with blue cone monochromacy (Buena-Atienza et al., 2016); Functional studies demonstrate loss of cone opsin function with misfolded opsins that are retained in the endoplasmic reticulum and degraded (Kazmi et al., 1997); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27274860, 22998501, 23139274, 23322568, 25168334, 2788922, 8666378, 27447086, 15094734, 9152227, 30516820, 27339364)
Genetics and Molecular Pathology, SA Pathology RCV002466398 SCV002761565 pathogenic Protan defect 2021-10-21 criteria provided, single submitter clinical testing
OMIM RCV000011251 SCV000031478 pathogenic Cone monochromatism 2005-01-01 no assertion criteria provided literature only

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