ClinVar Miner

Submissions for variant NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)

gnomAD frequency: 0.00004  dbSNP: rs104894033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512588 SCV003268922 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 264 of the OPN1SW protein (p.Pro264Ser). This variant is present in population databases (rs104894033, gnomAD 0.005%). This missense change has been observed in individuals with retinitis pigementosa and/or tritanopia (PMID: 1386496, 31816670). ClinVar contains an entry for this variant (Variation ID: 64). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
OMIM RCV000000081 SCV000020224 pathogenic Blue color blindness 1992-08-01 no assertion criteria provided literature only

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