ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.5880G>C (p.Gln1960His)

dbSNP: rs1388543844
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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 RCV002353536 SCV002652516 uncertain significance Inborn genetic diseases 2021-07-10 criteria provided, single submitter clinical testing The p.Q1960H variant (also known as c.5880G>C), located in coding exon 40 of the LRRK2 gene, results from a G to C substitution at nucleotide position 5880. The glutamine at codon 1960 is replaced by histidine, 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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