ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2613A>C (p.Glu871Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004063941 SCV002734609 uncertain significance not specified 2022-02-17 criteria provided, single submitter clinical testing The p.E825D variant (also known as c.2475A>C), located in coding exon 23 of the KIF1B gene, results from an A to C substitution at nucleotide position 2475. The glutamic acid at codon 825 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003742832 SCV004548171 uncertain significance Charcot-Marie-Tooth disease type 2 2022-12-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 825 of the KIF1B protein (p.Glu825Asp). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1791824). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs764740446, gnomAD 0.01%).

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