ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3935G>A (p.Arg1312His)

gnomAD frequency: 0.00001  dbSNP: rs766432835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064132 SCV001229012 uncertain significance Charcot-Marie-Tooth disease type 2 2023-07-14 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. 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. ClinVar contains an entry for this variant (Variation ID: 858286). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs766432835, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1266 of the KIF1B protein (p.Arg1266His).
Ambry Genetics RCV004030523 SCV002622717 uncertain significance not specified 2022-02-28 criteria provided, single submitter clinical testing The p.R1266H variant (also known as c.3797G>A), located in coding exon 34 of the KIF1B gene, results from a G to A substitution at nucleotide position 3797. The arginine at codon 1266 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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