Submissions for variant NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val)

gnomAD frequency: 0.00050  dbSNP: rs17466213

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000032450	SCV000378603	likely benign	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000032450	SCV000762641	likely benign	Autosomal dominant Parkinson disease 8	2024-01-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000032450	SCV001138689	likely benign	Autosomal dominant Parkinson disease 8	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003389750	SCV004130560	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	LRRK2: BP4, BS2
GeneReviews	RCV000032450	SCV000056107	not provided	Autosomal dominant Parkinson disease 8		no assertion provided	literature only