ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) (rs35550482)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172739 SCV000051363 benign Primary dilated cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038857 SCV000062535 benign not specified 2018-08-29 criteria provided, single submitter clinical testing The p.Ala276Val variant in ANKRD1 is classified as benign because it has been de tected in 2% (212/10136) of Ashkenazi Jewish chromosomes by gnomAD (http://gnoma d.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000038857 SCV000232725 likely benign not specified 2015-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000038857 SCV000235727 benign not specified 2018-03-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000252792 SCV000318911 benign Cardiovascular phenotype 2017-02-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001081125 SCV000563271 benign ANKRD1-related dilated cardiomyopathy 2020-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590657 SCV000699381 likely benign not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.827C>T (p.Ala276Val) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). In vitro functional analysis shows that this variant leads to decrease in transcriptional repression activity (Duboscq-Bidot_2009).This variant was found in 346/121722 control chromosomes (1 homozygote) including ExAC at a frequency of 0.0028425, which is approximately 83 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), suggesting this variant is likely a benign polymorphism. This variant has been reported in two siblings with DCM without strong evidence for causality (Duboscq-Bidot_2009). In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign/benign. Taken together, this variant is currently classified as likely benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623947 SCV000740548 likely benign Primary familial hypertrophic cardiomyopathy 2017-05-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000614830 SCV000743701 likely benign Congenital total pulmonary venous return anomaly 2016-10-19 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000614830 SCV000745109 uncertain significance Congenital total pulmonary venous return anomaly 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770301 SCV000901734 likely benign Cardiomyopathy 2016-08-16 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852623 SCV000995327 benign Cardiomyopathy; Systolic heart failure 2019-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000172739 SCV001259573 likely benign Primary dilated cardiomyopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285195 SCV001471588 benign none provided 2020-07-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614830 SCV000732967 benign Congenital total pulmonary venous return anomaly no assertion criteria provided clinical testing

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