ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4068C>T (p.Asn1356=)

gnomAD frequency: 0.00001  dbSNP: rs1481460597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766020 SCV002000739 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV002077199 SCV002415915 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-10-03 criteria provided, single submitter clinical testing

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