ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) (rs140281678)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000389116 SCV000380448 uncertain significance Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000522245 SCV000617172 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KIF5A gene. The E758K variant has been reported previously as a variant of unknown clinical significance in a patient with axonal hereditary motor neuropathy (Hartley et al., 2017). The E758K variant is observed in 144/126690 (0.11%) alleles from individuals of European background (Lek et al., 2016). The E758K 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; and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000633076 SCV000754288 likely benign Spastic paraplegia 2017-10-12 criteria provided, single submitter clinical testing

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