Submissions for variant NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)

gnomAD frequency: 0.00369  dbSNP: rs139687202

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475662	SCV000557269	benign	Hereditary spastic paraplegia 11	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000518728	SCV000615410	benign	not specified	2019-10-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000475662	SCV001279404	likely benign	Hereditary spastic paraplegia 11	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.
UM ALS/MND Lab, University Of Malta	RCV001260217	SCV001437186	uncertain significance	Amyotrophic lateral sclerosis	2020-09-09	criteria provided, single submitter	case-control
GeneDx	RCV001563519	SCV001786478	likely benign	not provided	2022-03-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848826	SCV002105691	likely benign	Hereditary spastic paraplegia	2021-11-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001563519	SCV004136527	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SPG11: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001563519	SCV001798248	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001563519	SCV001925588	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000518728	SCV001975355	benign	not specified		no assertion criteria provided	clinical testing