ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3630C>T (p.Asn1210=)

gnomAD frequency: 0.00001  dbSNP: rs910542787
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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 RCV001488821 SCV001693346 likely benign Charcot-Marie-Tooth disease type 2 2022-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037292 SCV002612889 uncertain significance not specified 2024-04-22 criteria provided, single submitter clinical testing The c.3492C>T variant (also known as p.N1164N), located in coding exon 30 of the KIF1B gene, results from a C to T substitution at nucleotide position 3492. This nucleotide substitution does not change the asparagine at codon 1164. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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