ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.2769G>C (p.Gln923His) (rs58559150)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483489 SCV000568511 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing The Q923H variant in the LRRK2 gene has been reported previously in families with autosomal dominant Parkinson disease, however it was not found to segregate with disease in these families (Camargos et al., 2009; Jasinska-Myga et al., 2010). The Q923H variant has also been reported in individuals with sporadic Parkinson disease, however it is also seen at a similar frequency in control subjects (Jasinska-Myga et al., 2010; Ross et al., 2011). The Q923H variant is observed in 7/11236 (0.06%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The Q923H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Q923H as a variant of uncertain significance.
GeneReviews RCV000032427 SCV000056083 unknown Parkinson disease 8, autosomal dominant 2012-09-13 no assertion criteria provided curation Converted during submission to Uncertain significance.

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