Submissions for variant NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)

gnomAD frequency: 0.00019  dbSNP: rs150266349

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000766418	SCV000235734	uncertain significance	not provided	2023-02-21	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: 31983221)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000183307	SCV000710891	uncertain significance	not specified	2017-04-20	criteria provided, single submitter	clinical testing	The p.Asp150Val variant in ANKRD1 has not been previously reported in individual s with cardiomyopathy, but has been identified in 0.1% (23/23930) of African chr omosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitut e.org/; dbSNP rs150266349). This variant has been reported in ClinVar (Variation ID 201673) as of uncertain significance. Computational prediction tools and con servation analysis suggest that the p.Asp150Val variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Asp150Val variant is uncertain.
Invitae	RCV001089378	SCV000776770	likely benign	ANKRD1-related dilated cardiomyopathy	2023-05-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326988	SCV002636484	likely benign	Cardiovascular phenotype	2021-08-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000766418	SCV001953617	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000766418	SCV001965858	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000766418	SCV001978839	uncertain significance	not provided		no assertion criteria provided	clinical testing