ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) (rs879253888)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236491 SCV000292595 pathogenic not provided 2021-04-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32096284, 33619735, 30612907, 30564185, 28332297, 26354034)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000236491 SCV000700740 pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623278 SCV000741095 pathogenic Inborn genetic diseases 2016-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763486 SCV000894271 likely pathogenic Hereditary sensory and autonomic neuropathy type IIA; Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 2018-10-31 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000995795 SCV001426707 pathogenic Intellectual disability, autosomal dominant 9 2020-06-15 criteria provided, single submitter curation This variant is interpreted as pathogenic for NESCAV syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo (paternity and maternity confirmed) (PS2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2); Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (PM1 downgraded to supporting); Prevalence in affected individuals statistically increased over controls (PS4 downgraded to supporting).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000236491 SCV001446534 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000995795 SCV001150146 pathogenic Intellectual disability, autosomal dominant 9 2018-01-30 no assertion criteria provided clinical testing
OMIM RCV000995795 SCV001244201 pathogenic Intellectual disability, autosomal dominant 9 2020-04-16 no assertion criteria provided literature only

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