ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.953G>A (p.Arg318His)

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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 RCV002953091 SCV003273310 uncertain significance Spastic ataxia 2 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 318 of the KIF1C protein (p.Arg318His). This variant is present in population databases (rs776654539, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 2061982). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIF1C protein function with a negative predictive value of 80%. 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 RCV002953092 SCV003746099 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.953G>A (p.R318H) alteration is located in exon 12 (coding exon 10) of the KIF1C gene. This alteration results from a G to A substitution at nucleotide position 953, causing the arginine (R) at amino acid position 318 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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