ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.5166G>A (p.Gly1722=)

gnomAD frequency: 0.00003  dbSNP: rs200905003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002094594 SCV002439513 likely benign Autosomal dominant Parkinson disease 8 2021-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337327 SCV002641366 likely benign Inborn genetic diseases 2022-04-26 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.

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