ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1030G>A (p.Glu344Lys)

dbSNP: rs1942259532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237188 SCV001409939 uncertain significance Autosomal dominant Parkinson disease 8 2019-09-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 344 of the LRRK2 protein (p.Glu344Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LRRK2-related conditions. 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: "Benign"; 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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