ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala)

gnomAD frequency: 0.00717  dbSNP: rs4640000
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032447 SCV001015963 benign Autosomal dominant Parkinson disease 8 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000873877 SCV001144466 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000032447 SCV001271994 benign Autosomal dominant Parkinson disease 8 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.
GeneDx RCV000873877 SCV001764861 likely benign not provided 2023-02-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV000032447 SCV002802189 likely benign Autosomal dominant Parkinson disease 8 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914889 SCV004733800 benign LRRK2-related condition 2019-05-02 criteria provided, single submitter 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).
GeneReviews RCV000032447 SCV000056104 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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