Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001812482 | SCV001472238 | uncertain significance | not provided | 2019-09-11 | criteria provided, single submitter | clinical testing | The KIF1B c.4370A>T; p.His1457Leu variant (rs1224742258), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The histidine at codon 1457 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.His1457Leu variant is uncertain at this time. |