ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4880C>T (p.Pro1627Leu)

gnomAD frequency: 0.00001  dbSNP: rs763752868
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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 RCV001215834 SCV001387598 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339564 SCV002634983 uncertain significance Inborn genetic diseases 2023-10-12 criteria provided, single submitter clinical testing The c.4880C>T (p.P1627L) alteration is located in exon 46 (coding exon 45) of the KIF1A gene. This alteration results from a C to T substitution at nucleotide position 4880, causing the proline (P) at amino acid position 1627 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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