Submissions for variant NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met)

gnomAD frequency: 0.00621  dbSNP: rs72546327

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000032453	SCV000378605	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	RCV000032453	SCV001001797	benign	Autosomal dominant Parkinson disease 8	2024-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001564529	SCV001787709	likely benign	not provided	2020-06-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25821816, 24313877)
PreventionGenetics, part of Exact Sciences	RCV003924881	SCV004741742	benign	LRRK2-related condition	2022-02-18	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneReviews	RCV000032453	SCV000056110	not provided	Autosomal dominant Parkinson disease 8		no assertion provided	literature only