ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3698G>A (p.Ser1233Asn)

dbSNP: rs2499781806
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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 RCV004525200 SCV005031575 uncertain significance Inborn genetic diseases 2022-05-12 criteria provided, single submitter clinical testing The p.S1233N variant (also known as c.3698G>A), located in coding exon 27 of the LRRK2 gene, results from a G to A substitution at nucleotide position 3698. The serine at codon 1233 is replaced by asparagine, an amino acid with highly 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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