Submissions for variant NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)

gnomAD frequency: 0.00169  dbSNP: rs150148567

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227669	SCV000285525	benign	Werner syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000227669	SCV000473325	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.
CeGaT Center for Human Genetics Tuebingen	RCV000858340	SCV001155399	uncertain significance	not provided	2024-05-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000858340	SCV001823247	uncertain significance	not provided	2020-07-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32041611, 28591191)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000858340	SCV002011302	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000227669	SCV003823788	uncertain significance	Werner syndrome	2020-08-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003919923	SCV004743729	likely benign	WRN-related disorder	2022-04-11	no assertion criteria provided	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).