ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=)

gnomAD frequency: 0.01379  dbSNP: rs77393809
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474993 SCV000563500 benign Hereditary spastic paraplegia 48 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000474993 SCV001323324 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 RCV000116376 SCV001476140 benign not specified 2019-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001582582 SCV001812675 likely benign not provided 2021-08-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847671 SCV002106185 benign Hereditary spastic paraplegia 2021-10-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116376 SCV000150300 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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