Submissions for variant NM_000533.5(PLP1):c.609T>C (p.Asp203=)

gnomAD frequency: 0.24238  dbSNP: rs1126707

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079098	SCV000110967	benign	not specified	2014-11-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079098	SCV000304713	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000079098	SCV000519687	benign	not specified	2016-03-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000710178	SCV000614671	benign	not provided	2017-07-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311565	SCV000846188	benign	Inborn genetic diseases	2014-11-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001079548	SCV001000358	benign	Hereditary spastic paraplegia 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789126	SCV002031495	benign	Pelizaeus-Merzbacher disease	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001079548	SCV002031496	benign	Hereditary spastic paraplegia 2	2021-10-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847653	SCV002105481	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000079098	SCV004804420	benign	not specified	2024-01-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079098	SCV000152314	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079098	SCV001743297	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079098	SCV001929959	benign	not specified		no assertion criteria provided	clinical testing