ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)

gnomAD frequency: 0.00055  dbSNP: rs143204084
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520961 SCV001730186 benign Autosomal recessive early-onset Parkinson disease 6 2024-01-19 criteria provided, single submitter clinical testing
Mendelics RCV002246404 SCV002518866 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264373 SCV002544246 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing PINK1: PM2, BP4
Revvity Omics, Revvity RCV001520961 SCV003808391 uncertain significance Autosomal recessive early-onset Parkinson disease 6 2022-05-13 criteria provided, single submitter clinical testing
GeneDx RCV002264373 SCV003842911 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing Reported as a paternally inherited variant in an individual with early onset Parkinson disease and his father with mild neurological symptoms (Djarmati et al., 2006); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 32740907, 33845304, 21412950, 23986421, 22644621, 16755580)

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