ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3772A>G (p.Ile1258Val)

gnomAD frequency: 0.00001  dbSNP: rs746270104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796183 SCV000935684 uncertain significance Charcot-Marie-Tooth disease type 2 2021-06-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KIF1B-related disease. This variant is present in population databases (rs746270104, ExAC 0.01%). This sequence change replaces isoleucine with valine at codon 1212 of the KIF1B protein (p.Ile1212Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Ambry Genetics RCV004027556 SCV002618128 uncertain significance not specified 2024-10-29 criteria provided, single submitter clinical testing The p.I1212V variant (also known as c.3634A>G), located in coding exon 32 of the KIF1B gene, results from an A to G substitution at nucleotide position 3634. The isoleucine at codon 1212 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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