ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)

gnomAD frequency: 0.00001  dbSNP: rs1051917954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809194 SCV002059653 uncertain significance Pheochromocytoma 2019-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040932 SCV002635986 uncertain significance not specified 2023-06-17 criteria provided, single submitter clinical testing The p.I149V variant (also known as c.445A>G), located in coding exon 5 of the KIF1B gene, results from an A to G substitution at nucleotide position 445. The isoleucine at codon 149 is replaced by valine, 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 deleterious 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 RCV002541481 SCV002933638 uncertain significance Charcot-Marie-Tooth disease type 2 2023-04-25 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KIF1B protein function. ClinVar contains an entry for this variant (Variation ID: 1333979). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 149 of the KIF1B protein (p.Ile149Val).

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