Submissions for variant NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)

dbSNP: rs35018134

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192964	SCV000249494	uncertain significance	not specified	2014-06-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085598	SCV000252835	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263238	SCV000388034	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.
GeneDx	RCV000713435	SCV000716510	likely benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713435	SCV000844043	benign	not provided	2017-09-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713435	SCV001746204	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ZFYVE26: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847876	SCV002106058	likely benign	Hereditary spastic paraplegia	2019-10-01	criteria provided, single submitter	clinical testing