ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=)

gnomAD frequency: 0.00003  dbSNP: rs111435410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002326717 SCV002626676 likely benign Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneReviews RCV000032456 SCV000056113 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only
PreventionGenetics, part of Exact Sciences RCV003952383 SCV004783359 likely benign LRRK2-related disorder 2023-03-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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