ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4363G>T (p.Asp1455Tyr)

dbSNP: rs2499827037
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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 RCV002332372 SCV002632260 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The p.D1455Y variant (also known as c.4363G>T), located in coding exon 31 of the LRRK2 gene, results from a G to T substitution at nucleotide position 4363. The aspartic acid at codon 1455 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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