ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3602G>A (p.Arg1201His)

gnomAD frequency: 0.00004  dbSNP: rs765118465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658948 SCV001874195 uncertain significance not provided 2024-04-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001882758 SCV002201215 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-11-24 criteria provided, single submitter clinical testing

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