ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)

gnomAD frequency: 0.00014  dbSNP: rs139801016
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391548 SCV000380457 likely benign Hereditary spastic paraplegia 10 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000994942 SCV000715901 likely benign not provided 2018-08-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31108397)
CeGaT Center for Human Genetics Tuebingen RCV000994942 SCV001148772 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing KIF5A: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001039954 SCV001203506 likely benign Spastic paraplegia 2025-01-27 criteria provided, single submitter clinical testing
UM ALS/MND Lab, University Of Malta RCV001260220 SCV001437189 uncertain significance Amyotrophic lateral sclerosis 2020-09-09 criteria provided, single submitter case-control
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848094 SCV002105371 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000994942 SCV005408352 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing BP4

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