ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)

gnomAD frequency: 0.03666  dbSNP: rs148871409
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000576611 SCV000353509 benign 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 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 RCV000576611 SCV000604670 benign Autosomal recessive early-onset Parkinson disease 6 2023-11-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001642905 SCV000677385 benign not specified 2021-05-14 criteria provided, single submitter clinical testing
Invitae RCV000576611 SCV001727458 benign Autosomal recessive early-onset Parkinson disease 6 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001579479 SCV001908344 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579479 SCV001807420 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001642905 SCV001964564 benign not specified no assertion criteria provided clinical testing

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