ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) (rs150036969)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172513 SCV000051361 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038589 SCV000062267 uncertain significance not specified 2015-08-25 criteria provided, single submitter clinical testing The p.Glu629Asp variant in ABCC9 has been identified by our laboratory in 1 Cauc asian individual with probable ARVC. This variant has also been identified in 17 /66508 of European chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs150036969). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Glu629Asp variant i s uncertain.
Invitae RCV000556250 SCV000639222 uncertain significance Dilated cardiomyopathy 1O 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 629 of the ABCC9 protein (p.Glu629Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs150036969, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with ABCC9-related disease. ClinVar contains an entry for this variant (Variation ID: 45392). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000617943 SCV000737066 likely benign Cardiovascular phenotype 2018-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770404 SCV000901846 uncertain significance Cardiomyopathy 2015-11-20 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845371 SCV000987429 likely benign Conduction disorder of the heart criteria provided, single submitter clinical testing

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