ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2170G>T (p.Ala724Ser)

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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 RCV003114126 SCV003795433 uncertain significance Charcot-Marie-Tooth disease type 2 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 678 of the KIF1B protein (p.Ala678Ser). 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. ClinVar contains an entry for this variant (Variation ID: 2427796). 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 tolerated. 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 RCV004935317 SCV005610014 uncertain significance not specified 2024-07-13 criteria provided, single submitter clinical testing The p.A678S variant (also known as c.2032G>T), located in coding exon 20 of the KIF1B gene, results from a G to T substitution at nucleotide position 2032. The alanine at codon 678 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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