ClinVar Miner

Submissions for variant NC_000002.11:g.(?_241702563)_(241710541_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707901 SCV000837011 uncertain significance Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2018-01-15 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 6-37 of the KIF1A gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679). This duplication would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with KIF1A-related disease. 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.

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