ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4194G>T (p.Lys1398Asn)

gnomAD frequency: 0.00001  dbSNP: rs745612845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347808 SCV001542086 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2022-08-23 criteria provided, single submitter clinical testing
GeneDx RCV002462950 SCV002757001 uncertain significance not provided 2022-10-31 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

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