ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer)

gnomAD frequency: 0.00002  dbSNP: rs281865056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000032512 SCV002806219 uncertain significance Autosomal dominant Parkinson disease 8 2021-11-23 criteria provided, single submitter clinical testing
Invitae RCV000032512 SCV004649430 uncertain significance Autosomal dominant Parkinson disease 8 2023-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met2397*) in the LRRK2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LRRK2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 39237). This variant has not been reported in the literature in individuals affected with LRRK2-related conditions. This variant is present in population databases (rs755072260, gnomAD 0.005%).
GeneReviews RCV000032512 SCV000056175 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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