ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro) (rs33995463)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000657893 SCV000640128 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000657893 SCV000779657 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing The L119P variant in the LRRK2 gene has been reported previously in individuals with Parkinson disease, however L119P was also seen in control subjects (Jasinska-Myga et al., 2010; Ross et al., 2011; Benitez et al., 2016). The L119P variant is observed in 276/126528 (0.22%) alleles from individuals of non-Finnish European background, in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). The L119P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret L119P as a variant of uncertain significance.
GeneReviews RCV000032441 SCV000056098 unknown Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Uncertain significance.

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