ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6476T>C

gnomAD frequency: 0.00001  dbSNP: rs764466176
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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 RCV002254871 SCV002526077 uncertain significance Pheochromocytoma 2022-05-23 criteria provided, single submitter clinical testing The KIF1B c.2537T>C (p.Val846Ala) missense change has a maximum subpopulation frequency of 0.0070% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). 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). It is predicted to have a benign effect on protein function (BP4), but to our knowledge this prediction has not been confirmed by functional studies. 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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