ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)

gnomAD frequency: 0.01047  dbSNP: rs35303786
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000032474 SCV000378616 likely benign Autosomal dominant Parkinson disease 8 2018-03-08 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 RCV000032474 SCV000640133 benign Autosomal dominant Parkinson disease 8 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712241 SCV000842685 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000712241 SCV001802132 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25821816, 21885347, 24470158, 23913756)
PreventionGenetics, part of Exact Sciences RCV003974864 SCV004793805 benign LRRK2-related condition 2019-11-27 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 RCV000032474 SCV000056134 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000712241 SCV001806905 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000712241 SCV001966436 likely benign not provided no assertion criteria provided clinical testing

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