Submissions for variant NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)

gnomAD frequency: 0.00621  dbSNP: rs75860381

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000534302	SCV000645381	benign	not provided	2024-01-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154506	SCV001315875	benign	Autosomal recessive juvenile Parkinson disease 2	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Athena Diagnostics Inc	RCV000534302	SCV001475990	likely benign	not provided	2019-12-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002497154	SCV002805532	likely benign	Autosomal recessive juvenile Parkinson disease 2; Neoplasm of ovary; Lung cancer	2021-10-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000534302	SCV004158599	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	PRKN: PM5, BS1, BS2