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
Invitae RCV001488821 SCV001693346 likely benign Charcot-Marie-Tooth disease type 2 2022-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456865 SCV002612889 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-08 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 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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