ClinVar Miner

Submissions for variant NM_024652.6(LRRK1):c.4962_4963del (p.Phe1655fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003557260 SCV004283688 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LRRK1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1655Serfs*29) in the LRRK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRRK1 are known to be pathogenic (PMID: 23526378, 31571209, 32119750).

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