ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2093-7T>C (rs185235724)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770402 SCV000901844 benign Cardiomyopathy 2017-03-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000038596 SCV000916398 benign not specified 2018-10-08 criteria provided, single submitter clinical testing Variant summary: ABCC9 c.2093-7T>C alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 0.0024 in 277106 control chromosomes in the gnomAD database, including 2 homozygotes. The observed variant frequency is approximately 97.72 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. c.2093-7T>C has been reported in the literature in individuals affected with Cardiomyopathy. These report(s) do not provide unequivocal conclusions about association of the variant with Cardiomyopathy. Co-occurrences with other pathogenic variant(s) have been reported (TNNT2 c.629_631delAGA; Pugh_2014), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000461378 SCV000561921 benign Dilated cardiomyopathy 1O 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038596 SCV000062274 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing c.2093-7T>C in intron 15 of ABCC9: This variant is not expected to have clinical significance because it has been identified in 0.4% (248/66728) of European chr omosomes, including 2 homozygotes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs185235724).
Phosphorus, Inc. RCV000577954 SCV000679932 likely benign Brugada syndrome 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578010 SCV000679933 likely benign Hypertrichotic osteochondrodysplasia 2017-08-01 criteria provided, single submitter clinical testing

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