ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.126G>C (p.Gln42His)

gnomAD frequency: 0.00001  dbSNP: rs202033753
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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 RCV000803511 SCV000943389 uncertain significance Spastic ataxia 2 2022-08-17 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 648718). This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. This variant is present in population databases (rs202033753, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 42 of the KIF1C protein (p.Gln42His).
GeneDx RCV001772075 SCV001992163 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV003166229 SCV003873744 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.126G>C (p.Q42H) alteration is located in exon 4 (coding exon 2) of the KIF1C gene. This alteration results from a G to C substitution at nucleotide position 126, causing the glutamine (Q) at amino acid position 42 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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