Submissions for variant NM_000553.6(WRN):c.95A>G (p.Lys32Arg)

gnomAD frequency: 0.00310  dbSNP: rs34477820

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000122279	SCV000227158	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344080	SCV000473309	uncertain significance	Werner syndrome	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	RCV000344080	SCV000554390	benign	Werner syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000857870	SCV001155395	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	WRN: BP4, BS2
GeneDx	RCV000857870	SCV001887684	benign	not provided	2019-05-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28063943)
Genetic Services Laboratory, University of Chicago	RCV000122279	SCV002071487	likely benign	not specified	2020-10-05	criteria provided, single submitter	clinical testing
ITMI	RCV000122279	SCV000086504	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000857870	SCV001799113	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000857870	SCV001807885	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000857870	SCV001967083	likely benign	not provided		no assertion criteria provided	clinical testing