Submissions for variant NM_032409.3(PINK1):c.858G>A (p.Pro286=)

gnomAD frequency: 0.00019  dbSNP: rs148144773

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712568	SCV000343680	uncertain significance	not provided	2016-08-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001078680	SCV000353513	uncertain significance	Autosomal recessive early-onset Parkinson disease 6	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078680	SCV000763378	benign	Autosomal recessive early-onset Parkinson disease 6	2023-11-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712568	SCV000843084	benign	not provided	2017-10-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712568	SCV001147179	uncertain significance	not provided	2017-02-01	criteria provided, single submitter	clinical testing