ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys)

gnomAD frequency: 0.00001  dbSNP: rs539082919
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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 RCV000645366 SCV000767110 uncertain significance Spastic ataxia 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 829 of the KIF1C protein (p.Glu829Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV004025677 SCV004892721 uncertain significance Inborn genetic diseases 2024-02-26 criteria provided, single submitter clinical testing The c.2485G>A (p.E829K) alteration is located in exon 22 (coding exon 20) of the KIF1C gene. This alteration results from a G to A substitution at nucleotide position 2485, causing the glutamic acid (E) at amino acid position 829 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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