ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.7168G>A (p.Val2390Met)

gnomAD frequency: 0.00003  dbSNP: rs79546190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032510 SCV004625012 uncertain significance Autosomal dominant Parkinson disease 8 2023-03-04 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change does not substantially affect LRRK2 function (PMID: 35950872). 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: 39235). This missense change has been observed in individual(s) with Parkinson disease (PMID: 18098275, 21885347, 25466404). This variant is present in population databases (rs79546190, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2390 of the LRRK2 protein (p.Val2390Met).
GeneReviews RCV000032510 SCV000056173 not provided Autosomal dominant Parkinson disease 8 no assertion provided literature only

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