ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.560C>A (p.Pro187His)

gnomAD frequency: 0.00001  dbSNP: rs1268167803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002009042 SCV002268261 uncertain significance Leber congenital amaurosis 12 2022-08-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1488062). This variant has not been reported in the literature in individuals affected with RD3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 187 of the RD3 protein (p.Pro187His).

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