ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.812_817del (p.Ile271_Asn272del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002292370 SCV002583896 pathogenic Intellectual disability, autosomal dominant 9 2022-04-20 criteria provided, single submitter clinical testing The heteroygous 6 base pair deletion in exon 9 of the KIF1A gene that results in an in_frame deletion of amino acids (p.lle271_Asn272del) was detected. this varient has not been reported in the 1000 genomes, gnomADab databases. the reference region is conserved across species

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