ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1646T>C (p.Leu549Pro)

dbSNP: rs750763552
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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 RCV002021199 SCV002299192 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PDE6A-related conditions. 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. This variant is present in population databases (rs750763552, ExAC 0.001%). This sequence change replaces leucine with proline at codon 549 of the PDE6A protein (p.Leu549Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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