ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2524A>C (p.Met842Leu)

dbSNP: rs1002407297
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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 RCV002455686 SCV002739231 uncertain significance Inborn genetic diseases 2025-02-07 criteria provided, single submitter clinical testing The c.2524A>C (p.M842L) alteration is located in exon 20 (coding exon 20) of the LRRK2 gene. This alteration results from a A to C substitution at nucleotide position 2524, causing the methionine (M) at amino acid position 842 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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