ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4782C>G (p.Asn1594Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004621686 SCV005122682 uncertain significance not specified 2024-05-22 criteria provided, single submitter clinical testing The p.N1548K variant (also known as c.4644C>G), located in coding exon 41 of the KIF1B gene, results from a C to G substitution at nucleotide position 4644. The asparagine at codon 1548 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005059677 SCV005717507 uncertain significance Charcot-Marie-Tooth disease type 2 2024-06-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1548 of the KIF1B protein (p.Asn1548Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. 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.

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