ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.225G>A (p.Ala75=)

gnomAD frequency: 0.00146  dbSNP: rs75054132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032421 SCV001016304 benign Autosomal dominant Parkinson disease 8 2023-02-10 criteria provided, single submitter clinical testing
GeneDx RCV001705620 SCV001864254 benign not provided 2020-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444452 SCV002736550 likely benign Inborn genetic diseases 2022-02-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000032421 SCV000056077 unknown Autosomal dominant Parkinson disease 8 2012-09-13 no assertion criteria provided curation Converted during submission to Uncertain significance.

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