ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys)

gnomAD frequency: 0.00018  dbSNP: rs62072492
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691418 SCV000819196 uncertain significance Spastic ataxia 2 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1030 of the KIF1C protein (p.Arg1030Cys). This variant is present in population databases (rs62072492, gnomAD 0.02%). 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: 570542). 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 disruptive. 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.
CeGaT Center for Human Genetics Tuebingen RCV000996460 SCV001151171 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849055 SCV002105329 uncertain significance Hereditary spastic paraplegia 2017-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544910 SCV003536356 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.3088C>T (p.R1030C) alteration is located in exon 23 (coding exon 21) of the KIF1C gene. This alteration results from a C to T substitution at nucleotide position 3088, causing the arginine (R) at amino acid position 1030 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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