ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.5315C>G (p.Thr1772Arg)

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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 RCV004326212 SCV003999178 uncertain significance not specified 2023-04-03 criteria provided, single submitter clinical testing The p.T1726R variant (also known as c.5177C>G), located in coding exon 45 of the KIF1B gene, results from a C to G substitution at nucleotide position 5177. The threonine at codon 1726 is replaced by arginine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061216 SCV005720543 uncertain significance Charcot-Marie-Tooth disease type 2 2024-03-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1726 of the KIF1B protein (p.Thr1726Arg). This variant is not present in population databases (gnomAD no frequency). 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: 2561697). 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 tolerated. 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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