ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)

gnomAD frequency: 0.00001  dbSNP: rs773852256
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Total submissions: 2
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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 RCV001775464 SCV002012422 uncertain significance Pheochromocytoma 2021-10-12 criteria provided, single submitter clinical testing The KIF1B c.2036C>T (p.Ala679Val) missense change has a maximum subpopulation frequency of 0.0065% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/1-10380159-C-T?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). In silico tools are not in agreement about the effect of this variant on protein function, 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.
Ambry Genetics RCV004040769 SCV002718742 uncertain significance not specified 2023-06-10 criteria provided, single submitter clinical testing The p.A679V variant (also known as c.2036C>T), located in coding exon 20 of the KIF1B gene, results from a C to T substitution at nucleotide position 2036. The alanine at codon 679 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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