ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp)

gnomAD frequency: 0.00001  dbSNP: rs746442427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556588 SCV001778199 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This amino acid substitution does not occur within the predicted motor domain of the protein, where most pathogenic missense variants in KIF1A have been identified (Lee et al., 2015)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847302 SCV002105256 uncertain significance Hereditary spastic paraplegia 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001882639 SCV002208433 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-11-27 criteria provided, single submitter clinical testing

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