ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) (rs28730751)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038843 SCV000062521 benign not specified 2015-06-10 criteria provided, single submitter clinical testing p.Ala50Pro in exon 2 of ANKRD1: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (123/10406) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28730751).
GeneDx RCV000038843 SCV000166991 benign not specified 2013-07-09 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.
Invitae RCV001081064 SCV000289967 benign ANKRD1-related dilated cardiomyopathy 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250806 SCV000318819 benign Cardiovascular phenotype 2015-10-22 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587778 SCV000699371 benign not provided 2017-08-02 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.148G>C (p.Ala50Pro) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 133/121396 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.01182 (123/10406). This frequency is about 344 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as benign. To our knowledge, this variant has not been reported in affected individuals via publications. Taken together, this variant is classified as benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770309 SCV000901742 benign Cardiomyopathy 2016-10-12 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000587778 SCV000987681 likely benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852625 SCV000995329 benign Long QT syndrome 2018-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105939 SCV001262963 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609707 SCV000732975 benign Congenital total pulmonary venous return anomaly no assertion criteria provided clinical testing

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