ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.757G>A (p.Glu253Lys) (rs672601369)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850486 SCV000807298 pathogenic Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2017-12-31 criteria provided, single submitter clinical testing
CHU Sainte-Justine Research Center,University of Montreal RCV000149481 SCV000196126 pathogenic Mental retardation, autosomal dominant 9 2014-01-01 no assertion criteria provided clinical testing
GeneDx RCV000488961 SCV000576557 pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing The E253K variant in the KIF1A gene has been reported previously as a de novo change in several patients with an autosomal dominant KIF1A-related disorder (Lee et al., 2014; Esmaeeli Nieh et al., 2015; Volk et al., 2015). The E253K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E253K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In addition, this substitution occurs at a position within the kinesin motor domain that is conserved across species. Functional studies of E253K indicated that it results in a protein that has no motility and acts in a dominant-negative manner (Lee et al., 2014; Esmaeeli Nieh et al., 2015). We interpret E253K as a pathogenic variant.
OMIM RCV000149481 SCV000245996 pathogenic Mental retardation, autosomal dominant 9 2015-06-01 no assertion criteria provided literature only

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