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

gnomAD frequency: 0.00020  dbSNP: rs58559150

Total submissions: 5

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000032427	SCV002169526	likely benign	Autosomal dominant Parkinson disease 8	2024-08-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000483489	SCV002497585	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	LRRK2: BP4, BS1
Fulgent Genetics, Fulgent Genetics	RCV000032427	SCV005635019	uncertain significance	Autosomal dominant Parkinson disease 8	2024-06-01	criteria provided, single submitter	clinical testing
GeneReviews	RCV000032427	SCV000056083	not provided	Autosomal dominant Parkinson disease 8		no assertion provided	literature only