ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.5099C>T (p.Ser1700Leu)

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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 RCV004050299 SCV002642681 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The p.S1654L variant (also known as c.4961C>T), located in coding exon 44 of the KIF1B gene, results from a C to T substitution at nucleotide position 4961. The serine at codon 1654 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is well 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 RCV003743965 SCV004560651 uncertain significance Charcot-Marie-Tooth disease type 2 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1654 of the KIF1B protein (p.Ser1654Leu). This variant is present in population databases (rs767817087, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1744420). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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