ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.1240G>A (p.Val414Ile)

dbSNP: rs1565682626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702536 SCV000831394 uncertain significance Autosomal dominant Parkinson disease 8 2022-12-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 414 of the LRRK2 protein (p.Val414Ile). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRRK2 protein function. ClinVar contains an entry for this variant (Variation ID: 579293). This missense change has been observed in individual(s) with Parkinson disease (PMID: 30598256). This variant is not present in population databases (gnomAD no frequency).
CeGaT Center for Human Genetics Tuebingen RCV000761822 SCV000892024 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000702536 SCV002786841 uncertain significance Autosomal dominant Parkinson disease 8 2021-10-05 criteria provided, single submitter clinical testing

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