ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2513C>T (p.Thr838Ile)

dbSNP: rs1943969628
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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 RCV002432954 SCV002744281 uncertain significance Inborn genetic diseases 2024-01-15 criteria provided, single submitter clinical testing The p.T838I variant (also known as c.2513C>T), located in coding exon 20 of the LRRK2 gene, results from a C to T substitution at nucleotide position 2513. The threonine at codon 838 is replaced by isoleucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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