ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6545C>A

gnomAD frequency: 0.00004  dbSNP: rs1299989581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001789833 SCV002032289 uncertain significance Pheochromocytoma 2021-11-17 criteria provided, single submitter clinical testing The KIF1B c.2606C>A (p.Pro869Gln) missense change has a maximum subpopulation frequency of 0.0081% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/1-10363849-C-A?dataset=gnomad_r2_1). This variant occurs in a gene where missense variants are more likely to be damaging based on methods described by Lek et al. (PP2; PMID: 27535533). Five of five in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with pheochromocytoma or neuroblastoma. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PP2, BP4.

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