ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2770-13A>G (rs184123387)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150117 SCV000196945 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 2770-13A>G vari ant in ABCC9 has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.1% (11/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1 84123387). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictiv e enough to rule out pathogenicity. While this frequency suggests that this vari ant is more likely benign, it is too low to confidently rule out a disease causi ng role. Additional information is needed to fully assess its clinical significa nce.
Illumina Clinical Services Laboratory,Illumina RCV000265136 SCV000377489 uncertain significance Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322633 SCV000377490 uncertain significance Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379750 SCV000377491 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000150117 SCV000516672 benign not specified 2015-07-27 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000150117 SCV001158091 uncertain significance not specified 2019-02-19 criteria provided, single submitter clinical testing The c.2770-13A>G variant (rs184123387) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.3 percent in the European Finnish population (identified on 84 out of 25,766 chromosomes) and has been reported to the ClinVar database (Variation ID: 162686). Computational splice site prediction algorithms predict a weakening at the acceptor site of intron 22. Altogether, there is not enough evidence to classify the c.2770-13A>G variant with certainty.

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