ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.5939A>T (p.Asp1980Val)

dbSNP: rs2499931011
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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 RCV004517932 SCV005031486 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The p.D1980V variant (also known as c.5939A>T), located in coding exon 40 of the LRRK2 gene, results from an A to T substitution at nucleotide position 5939. The aspartic acid at codon 1980 is replaced by valine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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