ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) (rs587778791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639798 SCV000761379 pathogenic Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 2017-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu947Argfs*4) in the KIF1A gene. It is expected to result in an absent or disrupted protein product. The KIF1A gene has multiple clinically relevant transcripts. The p.Leu947Argfs*4 variant occurs in alternate transcript NM_001244008.1, which corresponds to position c.2555+1023delT in NM_004321.6, the primary transcript listed in the Methods. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in the homozygous or compound heterozygous state in multiple individuals affected with hereditary sensory and autonomic neuropathy type 2 (HSAN2) (PMID: 21820098). ClinVar contains an entry for this variant (Variation ID: 65859). Loss-of-function variants in KIF1A are known to be pathogenic (PMID: 21820098). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023085 SCV000044376 pathogenic Hereditary sensory and autonomic neuropathy type IIC 2011-08-12 no assertion criteria provided literature only
GeneReviews RCV000056104 SCV000087176 pathologic Hereditary sensory and autonomic neuropathy type IIA 2010-11-23 no assertion criteria provided curation Converted during submission to Pathogenic.

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