ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2714A>T (p.Lys905Ile)

gnomAD frequency: 0.00005  dbSNP: rs140851697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977200 SCV002259450 uncertain significance Autosomal dominant Parkinson disease 8 2021-12-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LRRK2-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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs140851697, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 905 of the LRRK2 protein (p.Lys905Ile).
Ambry Genetics RCV003170276 SCV003906131 uncertain significance Inborn genetic diseases 2023-01-16 criteria provided, single submitter clinical testing The p.K905I variant (also known as c.2714A>T), located in coding exon 21 of the LRRK2 gene, results from an A to T substitution at nucleotide position 2714. The lysine at codon 905 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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