Submissions for variant NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)

gnomAD frequency: 0.00291  dbSNP: rs143981992

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000408268	SCV000343822	benign	not specified	2016-08-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343998	SCV000388024	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics Inc	RCV000408268	SCV000616321	benign	not specified	2017-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV000633073	SCV000754285	benign	Spastic paraplegia	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001571869	SCV001796414	likely benign	not provided	2021-04-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848067	SCV002106076	likely benign	Hereditary spastic paraplegia	2018-12-01	criteria provided, single submitter	clinical testing