Submissions for variant NM_000311.5(PRNP):c.385A>G (p.Met129Val)

gnomAD frequency: 0.33516  dbSNP: rs1799990

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000020244	SCV000434229	benign	Inherited prion disease	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Mendelics	RCV000990275	SCV001141203	benign	Huntington disease-like 1	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001723566	SCV001156806	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262968	SCV001441032	likely benign	Inherited Creutzfeldt-Jakob disease	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990275	SCV001727182	benign	Huntington disease-like 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001723566	SCV001950542	benign	not provided	2018-10-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23399523, 20711061, 12601712, 10360778, 10079068, 23405858, 22669942, 23209282, 24249784, 16897605, 11684342, 22912570, 12660994, 2783132, 26061765, 27910931, 30917570, 31182772, 24340298, 30817871, 19081515, 24620982, 32949544, 8105681)
Fulgent Genetics, Fulgent Genetics	RCV002490365	SCV002795988	benign	Inherited Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Fatal familial insomnia; Huntington disease-like 1; Kuru, susceptibility to; Spongiform encephalopathy with neuropsychiatric features	2021-07-22	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital of Duesseldorf	RCV003450639	SCV004177232	benign	Fatal familial insomnia		criteria provided, single submitter	not provided
Breakthrough Genomics, Breakthrough Genomics	RCV001723566	SCV005207279	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000014331	SCV000034580	risk factor	not specified	2009-11-19	no assertion criteria provided	literature only
OMIM	RCV000014332	SCV000034581	risk factor	not specified	2009-11-19	no assertion criteria provided	literature only
OMIM	RCV000014333	SCV000034582	risk factor	not specified	2009-11-19	no assertion criteria provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000118064	SCV000152393	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	RCV000118064	SCV001740995	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000118064	SCV001808607	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000118064	SCV001922747	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118064	SCV001973625	benign	not specified		no assertion criteria provided	clinical testing
Gene Friend Way, National Innovation Center	RCV003313921	SCV004013884	uncertain significance	Autism spectrum disorder	2023-07-28	no assertion criteria provided	clinical testing	Results in an increased risk of prion disease and long term memory issues (PMID 1677164, PMID 15987701). This gene encodes a protein that is active in the brain and other tissues. In our study, about 10% of patients diagnosed with Autism Spectrum Disorder carry this variant. However, due to high frequency of the variant in the Vietnamese population, the pathogenicity of this variant is uncertain.