ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=) (rs141025897)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183226 SCV000235650 benign not specified 2014-09-23 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 RCV000261420 SCV000377486 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319196 SCV000377487 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376148 SCV000377488 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475996 SCV000561926 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617796 SCV000735417 likely benign Cardiovascular phenotype 2016-06-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770397 SCV000901838 likely benign Cardiomyopathy 2016-01-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000183226 SCV000916397 benign not specified 2018-07-09 criteria provided, single submitter clinical testing Variant summary: ABCC9 c.2826T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00026 in 277136 control chromosomes (gnomAD). The observed variant frequency is approximately 11-fold of the estimated maximal expected allele frequency for a pathogenic variant in ABCC9 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.2826T>C in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (2 x likely benign/benign, 1 x VUS). Based on the evidence outlined above, the variant was classified as benign.

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