ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.5089A>C (p.Met1697Leu)

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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 RCV004990159 SCV005619263 uncertain significance Inborn genetic diseases 2024-10-16 criteria provided, single submitter clinical testing The c.5089A>C (p.M1697L) alteration is located in exon 35 (coding exon 35) of the LRRK2 gene. This alteration results from a A to C substitution at nucleotide position 5089, causing the methionine (M) at amino acid position 1697 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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