Submissions for variant NM_198578.4(LRRK2):c.3615C>G (p.Ser1205Arg)

dbSNP: rs1944717503

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001114151	SCV001271993	uncertain significance	Autosomal dominant Parkinson disease 8	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002451324	SCV002617718	uncertain significance	Inborn genetic diseases	2022-10-05	criteria provided, single submitter	clinical testing	The p.S1205R variant (also known as c.3615C>G), located in coding exon 27 of the LRRK2 gene, results from a C to G substitution at nucleotide position 3615. The serine at codon 1205 is replaced by arginine, an amino acid with dissimilar 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.