ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3761A>C (p.His1254Pro)

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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 RCV004645008 SCV005132881 uncertain significance Inborn genetic diseases 2024-04-22 criteria provided, single submitter clinical testing The p.H1254P variant (also known as c.3761A>C), located in coding exon 27 of the LRRK2 gene, results from an A to C substitution at nucleotide position 3761. The histidine at codon 1254 is replaced by proline, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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