Submissions for variant NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)

gnomAD frequency: 0.00246  dbSNP: rs151287975

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001171677	SCV000535498	likely benign	not provided	2021-03-16	criteria provided, single submitter	clinical testing
Invitae	RCV000466291	SCV000556821	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000604782	SCV000745509	likely benign	Hereditary spastic paraplegia 15	2017-06-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000604782	SCV001274912	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.
CeGaT Center for Human Genetics Tuebingen	RCV001171677	SCV001334491	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ZFYVE26: BP4, BP7
Athena Diagnostics Inc	RCV000443553	SCV001474781	benign	not specified	2020-07-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848796	SCV002106071	likely benign	Hereditary spastic paraplegia	2020-07-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932691	SCV004751023	likely benign	ZFYVE26-related condition	2019-06-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000604782	SCV000733398	likely benign	Hereditary spastic paraplegia 15		no assertion criteria provided	clinical testing