Submissions for variant NM_000361.3(THBD):c.1418C>T (p.Ala473Val)

gnomAD frequency: 0.15009  dbSNP: rs1042579

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000302594	SCV000433111	benign	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	2018-03-06	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516722	SCV001725048	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001516722	SCV001950707	benign	not provided	2020-08-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23332921, 23520161, 9157575, 29592796, 33103541)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294300	SCV002587580	benign	Atypical hemolytic-uremic syndrome	2022-10-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001516722	SCV005312981	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV001643035	SCV000044077	uncertain significance	Variant of unknown significance	2004-12-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003969973	SCV004793317	benign	THBD-related disorder	2024-01-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).