Submissions for variant NM_198578.4(LRRK2):c.4936A>G (p.Met1646Val)

gnomAD frequency: 0.00001  dbSNP: rs769870318

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002342657	SCV002642705	uncertain significance	Inborn genetic diseases	2024-07-11	criteria provided, single submitter	clinical testing	The p.M1646V variant (also known as c.4936A>G), located in coding exon 34 of the LRRK2 gene, results from an A to G substitution at nucleotide position 4936. The methionine at codon 1646 is replaced by valine, an amino acid with highly similar 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.
PreventionGenetics, part of Exact Sciences	RCV003916452	SCV004729976	uncertain significance	LRRK2-related disorder	2023-10-27	no assertion criteria provided	clinical testing	The LRRK2 c.4936A>G variant is predicted to result in the amino acid substitution p.Met1646Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.