ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2072T>C (p.Phe691Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004809150 SCV005432188 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005105229 SCV005822076 uncertain significance Autosomal dominant Parkinson disease 8 2024-03-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 691 of the LRRK2 protein (p.Phe691Ser). This variant is present in population databases (rs372875244, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with LRRK2-related conditions. 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.

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