ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val)

gnomAD frequency: 0.00014  dbSNP: rs373541138
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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 RCV000810755 SCV000950988 uncertain significance Spastic ataxia 2 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1043 of the KIF1C protein (p.Ala1043Val). This variant is present in population databases (rs373541138, gnomAD 0.05%). 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: 654742). 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 tolerated. 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 RCV002538076 SCV003683413 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.3128C>T (p.A1043V) 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 3128, causing the alanine (A) at amino acid position 1043 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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