ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.182C>T (p.Ser61Leu)

dbSNP: rs2126098498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848477 SCV002104825 uncertain significance Hereditary spastic paraplegia 2018-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130555 SCV003814549 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003446926 SCV004171949 uncertain significance Intellectual disability, autosomal dominant 9 criteria provided, single submitter clinical testing The observed missense c.182C>T(p.Ser61Leu) variant in KIF1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser61Leu variant is absent in gnomAD Exomes. This variant has been submitted to the ClinVar database as Uncertain significance. The amino acid change p.Ser61Leu in KIF1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 61 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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