Submissions for variant NM_001244008.2(KIF1A):c.3698A>G (p.Lys1233Arg)

dbSNP: rs1553629083

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536348	SCV000638588	uncertain significance	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2017-06-12	criteria provided, single submitter	clinical testing	In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KIF1A-related disease. This sequence change replaces lysine with arginine at codon 1132 of the KIF1A protein (p.Lys1132Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.
CeGaT Center for Human Genetics Tuebingen	RCV002275062	SCV002563667	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing	KIF1A: PM2, PP2, PP3, BP5