Submissions for variant NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)

gnomAD frequency: 0.00113  dbSNP: rs150230201

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000292145	SCV000388066	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.
Invitae	RCV001081273	SCV001000759	benign	Spastic paraplegia	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000860644	SCV001149253	uncertain significance	not provided	2018-11-01	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000292145	SCV001520139	uncertain significance	Hereditary spastic paraplegia 15	2020-09-03	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Athena Diagnostics Inc	RCV001660641	SCV001880541	likely benign	not specified	2020-11-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910183	SCV004723693	likely benign	ZFYVE26-related condition	2022-10-13	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).