ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1260T>G (p.Asn420Lys)

dbSNP: rs1942345799
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002434827 SCV002678747 uncertain significance Inborn genetic diseases 2022-06-15 criteria provided, single submitter clinical testing The p.N420K variant (also known as c.1260T>G), located in coding exon 11 of the LRRK2 gene, results from a T to G substitution at nucleotide position 1260. The asparagine at codon 420 is replaced by lysine, 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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