ClinVar Miner

Submissions for variant NM_020061.6(OPN1LW):c.920C>T (p.Pro307Leu)

gnomAD frequency: 0.00001  dbSNP: rs782797093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002276292 SCV002562463 uncertain significance not provided 2022-02-07 criteria provided, single submitter clinical testing Variant observed in a patient with severe congenital color blindness in the literature (Nathans et al., 1993); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 8213841)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796720 SCV005418337 uncertain significance Cone monochromatism criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PS4_Supporting+PP4

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