ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.53G>A (p.Arg18His)

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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 RCV002937993 SCV003263097 uncertain significance Spastic ataxia 2 2022-03-31 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 18 of the KIF1C protein (p.Arg18His).
Ambry Genetics RCV004632101 SCV005124741 uncertain significance Inborn genetic diseases 2024-05-21 criteria provided, single submitter clinical testing The c.53G>A (p.R18H) alteration is located in exon 3 (coding exon 1) of the KIF1C gene. This alteration results from a G to A substitution at nucleotide position 53, causing the arginine (R) at amino acid position 18 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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