ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr)

gnomAD frequency: 0.00001  dbSNP: rs755935386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848493 SCV002105286 uncertain significance Hereditary spastic paraplegia 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543406 SCV002942739 likely benign Spastic ataxia 2 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543405 SCV003615200 uncertain significance Inborn genetic diseases 2022-03-11 criteria provided, single submitter clinical testing The c.1198G>A (p.A400T) alteration is located in exon 14 (coding exon 12) of the KIF1C gene. This alteration results from a G to A substitution at nucleotide position 1198, causing the alanine (A) at amino acid position 400 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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