ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)

gnomAD frequency: 0.00001  dbSNP: rs141942131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048551 SCV001212564 uncertain significance Charcot-Marie-Tooth disease type 2 2024-03-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 903 of the KIF1B protein (p.Thr903Met). This variant is present in population databases (rs141942131, gnomAD 0.006%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 845482). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173602 SCV001336702 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197631 SCV001368410 uncertain significance Pheochromocytoma 2019-02-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Ambry Genetics RCV004031513 SCV002743510 uncertain significance not specified 2023-02-24 criteria provided, single submitter clinical testing The p.T903M variant (also known as c.2708C>T), located in coding exon 24 of the KIF1B gene, results from a C to T substitution at nucleotide position 2708. The threonine at codon 903 is replaced by methionine, an amino acid with similar 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.

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