ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.2155C>T (p.Arg719Cys)

gnomAD frequency: 0.00001  dbSNP: rs147429300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848501 SCV002105311 uncertain significance Hereditary spastic paraplegia 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545273 SCV003483566 uncertain significance Spastic ataxia 2 2022-05-12 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 719 of the KIF1C protein (p.Arg719Cys). This variant is present in population databases (rs147429300, gnomAD 0.04%). 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: "Possibly Damaging"; 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 RCV002545274 SCV003669162 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.2155C>T (p.R719C) alteration is located in exon 22 (coding exon 20) of the KIF1C gene. This alteration results from a C to T substitution at nucleotide position 2155, causing the arginine (R) at amino acid position 719 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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