ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1121T>C (p.Leu374Pro)

dbSNP: rs2499505357
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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 RCV002440224 SCV002750256 uncertain significance Inborn genetic diseases 2024-04-27 criteria provided, single submitter clinical testing The p.L374P variant (also known as c.1121T>C), located in coding exon 10 of the LRRK2 gene, results from a T to C substitution at nucleotide position 1121. The leucine at codon 374 is replaced by proline, an amino acid with similar 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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