ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met)

gnomAD frequency: 0.00004  dbSNP: rs200002022
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000225428 SCV001268443 benign Autosomal dominant Parkinson disease 8 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV001531780 SCV001747057 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing LRRK2: BP4, BS2
Invitae RCV000225428 SCV003297928 uncertain significance Autosomal dominant Parkinson disease 8 2021-12-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 236296). This missense change has been observed in individual(s) with LRRK2-related conditions (PMID: 23726462, 26213354). This variant is present in population databases (rs200002022, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 2310 of the LRRK2 protein (p.Thr2310Met).
GeneReviews RCV000225428 SCV000282486 uncertain significance Autosomal dominant Parkinson disease 8 2014-12-11 no assertion criteria provided literature only

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