Submissions for variant NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)

gnomAD frequency: 0.00001  dbSNP: rs397517251

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038853	SCV000062531	likely benign	not specified	2015-08-12	criteria provided, single submitter	clinical testing	p.Ser187Phe in exon 6 of ANKRD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (79/16430) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs397517251).
Invitae	RCV000228146	SCV000289973	benign	ANKRD1-related dilated cardiomyopathy	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001529356	SCV000530964	benign	not provided	2019-02-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30659708)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770304	SCV000901737	likely benign	Cardiomyopathy	2015-08-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104799	SCV001261692	uncertain significance	Primary dilated cardiomyopathy	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.
Ambry Genetics	RCV002345302	SCV002654155	likely benign	Cardiovascular phenotype	2019-02-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529356	SCV001742649	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038853	SCV001921355	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529356	SCV001929460	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529356	SCV001966896	likely benign	not provided		no assertion criteria provided	clinical testing