ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2821G>T (p.Asp941Tyr)

dbSNP: rs943421158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933880 SCV002200052 uncertain significance Autosomal dominant Parkinson disease 8 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 941 of the LRRK2 protein (p.Asp941Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Parkinson disease (PMID: 32613234). ClinVar contains an entry for this variant (Variation ID: 1427778). Invitae Evidence 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 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.
Ambry Genetics RCV002441056 SCV002752543 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The p.D941Y variant (also known as c.2821G>T), located in coding exon 22 of the LRRK2 gene, results from a G to T substitution at nucleotide position 2821. The aspartic acid at codon 941 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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