ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met)

gnomAD frequency: 0.01795  dbSNP: rs11766611
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475087 SCV000563503 benign Hereditary spastic paraplegia 48 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000475087 SCV001321787 likely benign Hereditary spastic paraplegia 48 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.
Athena Diagnostics Inc RCV000116375 SCV001476138 benign not specified 2019-12-24 criteria provided, single submitter clinical testing
GeneDx RCV001618266 SCV001844179 benign not provided 2019-11-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847670 SCV002106173 benign Hereditary spastic paraplegia 2021-11-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116375 SCV000150299 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.