ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3643G>A (p.Ala1215Thr)

gnomAD frequency: 0.00012  dbSNP: rs143710836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513656 SCV000608640 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000556418 SCV000640129 uncertain significance Autosomal dominant Parkinson disease 8 2023-02-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1215 of the LRRK2 protein (p.Ala1215Thr). This variant is present in population databases (rs143710836, gnomAD 0.02%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with Parkinson disease (PMID: 27393345). ClinVar contains an entry for this variant (Variation ID: 444287). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV000556418 SCV002785163 uncertain significance Autosomal dominant Parkinson disease 8 2022-04-08 criteria provided, single submitter clinical testing

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