ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.620T>C (p.Ile207Thr)

gnomAD frequency: 0.00001  dbSNP: rs1458896948
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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 RCV001070011 SCV001235218 uncertain significance Autosomal dominant Parkinson disease 8 2019-01-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 207 of the LRRK2 protein (p.Ile207Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV003160578 SCV003906087 uncertain significance Inborn genetic diseases 2023-02-24 criteria provided, single submitter clinical testing The p.I207T variant (also known as c.620T>C), located in coding exon 6 of the LRRK2 gene, results from a T to C substitution at nucleotide position 620. The isoleucine at codon 207 is replaced by threonine, an amino acid with similar 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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