Submissions for variant NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)

gnomAD frequency: 0.02717  dbSNP: rs35077384

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000407569	SCV000332544	benign	not specified	2015-06-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000001352	SCV000366369	likely benign	Hereditary spastic paraplegia 33	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000415084	SCV000493051	uncertain significance	Spastic tetraparesis	2013-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471962	SCV000556810	benign	Spastic paraplegia	2024-01-18	criteria provided, single submitter	clinical testing
Mendelics	RCV000001352	SCV001138156	benign	Hereditary spastic paraplegia 33	2019-05-28	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000001352	SCV001369545	uncertain significance	Hereditary spastic paraplegia 33	2016-01-01	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance.
GeneDx	RCV001723530	SCV001950694	benign	not provided	2021-01-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18606302, 20981092, 16826525, 27884173)
OMIM	RCV000001352	SCV000021502	pathogenic	Hereditary spastic paraplegia 33	2014-05-09	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000407569	SCV001930785	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000407569	SCV001963288	benign	not specified		no assertion criteria provided	clinical testing