ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) (rs371737085)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117405 SCV000151600 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000117405 SCV000520024 likely benign not specified 2017-07-10 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 RCV001087763 SCV000638622 likely 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117405 SCV000706877 likely benign not specified 2017-03-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712150 SCV000842574 likely benign not provided 2018-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718270 SCV000849132 likely benign History of neurodevelopmental disorder 2017-02-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000712150 SCV001246468 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136787 SCV001296657 uncertain significance Spastic paraplegia 30, autosomal recessive 2018-03-23 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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