ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)

gnomAD frequency: 0.00002  dbSNP: rs768058092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653948 SCV000775838 uncertain significance Charcot-Marie-Tooth disease type 2 2024-05-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1696 of the KIF1B protein (p.Arg1696His). This variant is present in population databases (rs768058092, gnomAD 0.006%). 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: 543240). 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.
Ambry Genetics RCV004025925 SCV002642939 uncertain significance not specified 2023-04-10 criteria provided, single submitter clinical testing The p.R1696H variant (also known as c.5087G>A), located in coding exon 44 of the KIF1B gene, results from a G to A substitution at nucleotide position 5087. The arginine at codon 1696 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230271 SCV003928139 uncertain significance Pheochromocytoma 2023-05-03 criteria provided, single submitter clinical testing The KIF1B c.5087G>A (p.Arg1696His) missense change has a maximum subpopulation frequency of 0.006% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with pheochromocytoma or neuroblastoma. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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