Submissions for variant NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)

gnomAD frequency: 0.00750  dbSNP: rs140540720

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227619	SCV000290156	benign	Spastic paraplegia	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001116680	SCV001274801	likely benign	Hereditary spastic paraplegia 15	2018-01-13	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	RCV001582789	SCV001819515	likely benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847993	SCV002106098	likely benign	Hereditary spastic paraplegia	2019-06-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001116680	SCV002514112	benign	Hereditary spastic paraplegia 15	2021-12-05	criteria provided, single submitter	clinical testing