Submissions for variant NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr)

gnomAD frequency: 0.04637  dbSNP: rs3738136

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001000246	SCV000353517	benign	Autosomal recessive early-onset Parkinson disease 6	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000246	SCV001156799	benign	Autosomal recessive early-onset Parkinson disease 6	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001000246	SCV001718710	benign	Autosomal recessive early-onset Parkinson disease 6	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001707623	SCV001934849	benign	not provided	2018-08-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23459931, 17084972, 31182772)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV001579890	SCV005091770	benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 24. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001707623	SCV005286106	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579890	SCV001808875	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579890	SCV001965829	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739666	SCV005352687	benign	PINK1-related disorder	2024-03-20	no assertion criteria provided	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).