Submissions for variant NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)

gnomAD frequency: 0.12849  dbSNP: rs2292954

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118409	SCV000309381	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576853	SCV000399753	benign	Hereditary spastic paraplegia 7	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.
Athena Diagnostics	RCV000576853	SCV000677512	benign	Hereditary spastic paraplegia 7	2017-04-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000118409	SCV000966341	benign	not specified	2018-07-31	criteria provided, single submitter	clinical testing	Allele frequency 14% of total chromosomes by gnomad (http://gnomad.broadinstitut e.org).
Invitae	RCV000576853	SCV001000465	benign	Hereditary spastic paraplegia 7	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705868	SCV001903030	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576853	SCV002057610	benign	Hereditary spastic paraplegia 7	2021-07-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847729	SCV002105843	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118409	SCV000152809	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.