Submissions for variant NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)

gnomAD frequency: 0.00258  dbSNP: rs140756827

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000316714	SCV000342756	likely benign	not specified	2016-06-17	criteria provided, single submitter	clinical testing
Invitae	RCV001082500	SCV000556817	likely benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713434	SCV000844042	benign	not provided	2017-10-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713434	SCV001149249	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ZFYVE26: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001119777	SCV001278219	uncertain significance	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, 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.
GeneDx	RCV000713434	SCV001947152	benign	not provided	2019-03-14	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001119777	SCV001984449	benign	Hereditary spastic paraplegia 15	2020-07-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848065	SCV002106047	likely benign	Hereditary spastic paraplegia	2018-10-01	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000713434	SCV001797928	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000713434	SCV001955163	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000713434	SCV001974989	likely benign	not provided		no assertion criteria provided	clinical testing