ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) (rs143043717)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170672 SCV000223225 likely benign not specified 2018-01-16 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589070 SCV000697723 benign not provided 2017-05-22 criteria provided, single submitter clinical testing Variant summary: The ANK2 c.1135C>T (p.Arg379Cys) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 83/121354 control chromosomes (1 homozygote), predominantly observed in the South Asian cohort at a frequency of 0.004543 (75/16510). This frequency is about 454 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001). Therefore, suggesting this is likely a benign polymorphism found primarily in population(s) of South Asian origin. A publication, Al-Shamsi_2016, indicates the variant to have been found in affected heterozygous siblings, however, co-occurrence information was not provided and the parents were indicated to have been heterozygous for the variant, although phenotypic information was not provided for the parents. A clinical diagnostic laboratory classified this variant as uncertain significance, however, classification was assigned prior to ExAC data. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001151106 SCV001312209 benign Cardiac arrhythmia, ankyrin B-related 2017-12-04 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001458133 SCV001661948 likely benign Long QT syndrome 2020-11-19 criteria provided, single submitter clinical testing

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