ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.6889A>G (p.Ser2297Gly)

dbSNP: rs2137028788
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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 RCV003311220 SCV004006140 uncertain significance Inborn genetic diseases 2023-05-05 criteria provided, single submitter clinical testing The p.S2297G variant (also known as c.6889A>G), located in coding exon 47 of the LRRK2 gene, results from an A to G substitution at nucleotide position 6889. The serine at codon 2297 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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