ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)

gnomAD frequency: 0.00013  dbSNP: rs201500946
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527411 SCV000657735 uncertain significance Charcot-Marie-Tooth disease type 2 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 486 of the KIF1B protein (p.Pro486Ala). This variant is present in population databases (rs201500946, gnomAD 0.03%). 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: 476778). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KIF1B 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 RCV001173593 SCV001336692 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV004024379 SCV002695888 likely benign not specified 2020-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Revvity Omics, Revvity RCV003485606 SCV003814565 uncertain significance Charcot-Marie-Tooth disease type 2A1 2019-07-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003133359 SCV004032550 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing KIF1B: PP3

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