Submissions for variant NM_004562.3(PRKN):c.919C>T (p.Leu307=)

gnomAD frequency: 0.00076  dbSNP: rs138920699

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000513009	SCV000609242	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	PRKN: BP4
Labcorp Genetics (formerly Invitae), Labcorp	RCV000513009	SCV000766633	likely benign	not provided	2024-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155242	SCV001316661	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV003258842	SCV003946629	likely benign	Inborn genetic diseases	2023-06-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000513009	SCV001741785	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000513009	SCV001806792	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000513009	SCV001973919	likely benign	not provided		no assertion criteria provided	clinical testing