ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.406T>A (p.Leu136Met)

dbSNP: rs375500044
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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 RCV001372142 SCV001568748 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs375500044, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 136 of the PDE6A protein (p.Leu136Met). This variant has not been reported in the literature in individuals affected with PDE6A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1062429). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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