ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.-17A>G (rs79341122)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123658 SCV000166997 benign not specified 2013-02-22 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.
Illumina Clinical Services Laboratory,Illumina RCV000338260 SCV000366049 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586220 SCV000699373 benign not provided 2017-08-02 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.-17A>G variant involves the alteration of a non-conserved nucleotide in 5 UTR region. Mutation taster predicts a benign outcome for this variant. This variant was found in 261/121134 control chromosomes (1 homozygote) from ExAC, predominantly observed in the African subpopulation at a frequency of 0.023558 (245/10400). This frequency is about 685 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. One clinical diagnostic laboratory in ClinVar has 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000615730 SCV000745113 benign Congenital total pulmonary venous return anomaly 2017-05-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284919 SCV001471017 benign none provided 2020-06-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615730 SCV000732976 likely benign Congenital total pulmonary venous return anomaly no assertion criteria provided clinical testing

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