ClinVar Miner

Submissions for variant NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu)

gnomAD frequency: 0.00001  dbSNP: rs760659714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848498 SCV002105303 uncertain significance Hereditary spastic paraplegia 2020-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545272 SCV002974285 uncertain significance Spastic ataxia 2 2022-07-03 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1344395). This variant has not been reported in the literature in individuals affected with KIF1C-related conditions. This variant is present in population databases (rs760659714, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 615 of the KIF1C protein (p.Pro615Leu).

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