ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)

gnomAD frequency: 0.00002  dbSNP: rs387907286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498777 SCV000589668 uncertain significance not provided 2018-09-28 criteria provided, single submitter clinical testing The E755K variant in the KIF5A gene has been reported previously in a patient of HSP and this individual's father who displayed subclinical signs of HSP; however, not all genes associated with HSP were evaluated in this study (Crimella et al., 2012). The E755K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E755K 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. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E755K as a variant of uncertain significance.
Invitae RCV001852613 SCV002264479 likely benign Spastic paraplegia 2023-05-27 criteria provided, single submitter clinical testing
OMIM RCV000030759 SCV000053420 pathogenic Hereditary spastic paraplegia 10 2012-08-01 no assertion criteria provided literature only

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