ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) (rs116297894)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000760168 SCV000429260 benign Spastic paraplegia 30, autosomal recessive 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000117395 SCV000513402 benign not specified 2015-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083185 SCV000638560 benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712145 SCV000842569 benign not provided 2017-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715786 SCV000846617 benign History of neurodevelopmental disorder 2016-05-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Precision Medicine,Vanderbilt University Medical Center RCV000760168 SCV000889986 uncertain significance Spastic paraplegia 30, autosomal recessive 2018-03-16 criteria provided, single submitter research
Genetic Services Laboratory,University of Chicago RCV000117395 SCV000151592 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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