ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4214A>T (p.His1405Leu)

dbSNP: rs2499817713
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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 RCV003278475 SCV004006138 uncertain significance Inborn genetic diseases 2023-05-04 criteria provided, single submitter clinical testing The p.H1405L variant (also known as c.4214A>T), located in coding exon 30 of the LRRK2 gene, results from an A to T substitution at nucleotide position 4214. The histidine at codon 1405 is replaced by leucine, 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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