ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)

gnomAD frequency: 0.00003  dbSNP: rs749610931
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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 RCV000653892 SCV000775782 uncertain significance Charcot-Marie-Tooth disease type 2 2024-04-23 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 1229 of the KIF1B protein (p.Thr1229Arg). This variant is present in population databases (rs749610931, gnomAD 0.007%). 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: 543204). 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 disruptive. 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 RCV001174214 SCV001337341 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV004025920 SCV002619248 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 RCV003485621 SCV003814566 uncertain significance Charcot-Marie-Tooth disease type 2A1 2019-11-18 criteria provided, single submitter clinical testing

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