ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.3296C>T (p.Ser1099Leu) (rs763750448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712147 SCV000842571 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000539405 SCV000638580 uncertain significance Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2017-03-14 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1099 of the KIF1A protein (p.Ser1099Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. While this variant is present in population databases (rs763750448), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a KIF1A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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