ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)

dbSNP: rs33949390
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032472 SCV000378612 likely benign Autosomal dominant Parkinson disease 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000032472 SCV001014940 benign Autosomal dominant Parkinson disease 8 2023-10-14 criteria provided, single submitter clinical testing
Mendelics RCV000032472 SCV001138691 likely benign Autosomal dominant Parkinson disease 8 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001705623 SCV001825827 benign not provided 2021-09-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27812003, 25511328, 27133195, 24997548, 29209554, 29029963, 30954774, 30917570, 24095219, 26311745, 26930193, 18412265, 25761573, 22575234, 18716801, 20018409, 19672984, 24488318, 21885347, 20571044, 20186690, 23421816, 19699188, 25243190, 20642453)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000032472 SCV004807246 uncertain significance Autosomal dominant Parkinson disease 8 2024-03-26 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003993756 SCV004812816 benign Parkinson disease 2023-05-04 criteria provided, single submitter clinical testing East Asian population allele frequency is 1.844% (rs33949390, 413/19,932 alleles, 3 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as BENIGN. Following criteria are met: BA1
GeneReviews RCV000032472 SCV000056132 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
Codex Genetics Limited RCV000032472 SCV000996007 pathogenic Autosomal dominant Parkinson disease 8 2019-02-28 flagged submission provider interpretation
Codex Genetics Limited RCV000984891 SCV000996008 likely pathogenic Early onset Alzheimer disease with behavioral disturbance 2019-02-28 flagged submission provider interpretation
Codex Genetics Limited RCV000984892 SCV000996009 pathogenic Spinocerebellar atrophy 2019-02-28 flagged submission provider interpretation
Codex Genetics Limited RCV000984893 SCV000996010 pathogenic Klippel-Feil syndrome 1, autosomal dominant; Autosomal dominant Parkinson disease 8 2019-02-28 flagged submission provider interpretation

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