ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.4784G>A (p.Arg1595His) (rs756912340)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437574 SCV000511049 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000527406 SCV000638633 uncertain significance Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1595 of the KIF1A protein (p.Arg1595His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs756912340, ExAC 0.01%) but 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000764389 SCV000895442 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2018-10-31 criteria provided, single submitter clinical testing

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