Submissions for variant NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)

gnomAD frequency: 0.00003  dbSNP: rs201339450

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000321297	SCV000388058	likely benign	Hereditary spastic paraplegia 15	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.
Invitae	RCV000860611	SCV001000718	benign	Spastic paraplegia	2024-01-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848650	SCV002106015	likely benign	Hereditary spastic paraplegia	2018-05-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000321297	SCV002514139	benign	Hereditary spastic paraplegia 15	2021-12-05	criteria provided, single submitter	clinical testing
GeneDx	RCV002469128	SCV002765868	likely benign	not provided	2019-05-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.