ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.355G>A (p.Val119Met)

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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 RCV002910004 SCV003265656 uncertain significance Spastic ataxia 2 2022-03-19 criteria provided, single submitter clinical testing 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"). 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. This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. This variant is present in population databases (rs372339577, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 119 of the KIF1C protein (p.Val119Met).
Ambry Genetics RCV002947204 SCV003755838 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.355G>A (p.V119M) alteration is located in exon 5 (coding exon 3) of the KIF1C gene. This alteration results from a G to A substitution at nucleotide position 355, causing the valine (V) at amino acid position 119 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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