ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.5237C>A (p.Ala1746Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337768 SCV004048037 uncertain significance Autosomal dominant Parkinson disease 8 criteria provided, single submitter clinical testing The missense c.5237C>A (p.Ala1746Asp) variant in LRRK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ala at position 1746 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala1746Asp in LRRK2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance..

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