ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)

gnomAD frequency: 0.00004  dbSNP: rs769092155
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173594 SCV001336693 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001211459 SCV001383000 uncertain significance Charcot-Marie-Tooth disease type 2 2024-07-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1558 of the KIF1B protein (p.Val1558Ile). This variant is present in population databases (rs769092155, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of KIF1B-related conditions (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 917107). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The isoleucine 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507423 SCV001712966 uncertain significance not provided 2019-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032961 SCV002634414 benign not specified 2020-09-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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