ClinVar Miner

Submissions for variant NM_001385125.1(OPN1SW):c.173G>A (p.Arg58His)

gnomAD frequency: 0.00003  dbSNP: rs764582600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920403 SCV002186209 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 61 of the OPN1SW protein (p.Arg61His). This variant is present in population databases (rs764582600, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with OPN1SW-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411010). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The histidine 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.
GenomeConnect - Invitae Patient Insights Network RCV003483859 SCV004228881 not provided Blue color blindness no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-11-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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