ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) (rs72648973)

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Total submissions: 12
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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 RCV000154089 SCV000051440 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039987 SCV000063678 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp6524Asn va riant in TTN has been previously identified by our laboratory in 4 individuals w ith cardiomyopathy (1 infant with LVNC, 1 infant with RCM, 1 adult with HCM, and 1 adult with DCM). This variant has also been identified in 0.1% (85/66642) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs72648973). Computational prediction tools and conservati on analysis suggest that this variant may impact the protein, though this inform ation is not predictive enough to determine pathogenicity. In summary, while the clinical significance of the p.Asp6524Asn variant is uncertain, the broad pheno typic spectrum seen in individuals with this variant and its frequency in the ge neral population suggest that it is more likely to be benign.
GeneDx RCV000039987 SCV000238331 likely benign not specified 2018-01-11 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.
Ambry Genetics RCV000249580 SCV000318627 uncertain significance Cardiovascular phenotype 2013-05-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154089 SCV000334417 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299836 SCV000424220 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359255 SCV000424221 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402503 SCV000424222 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305761 SCV000424223 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360250 SCV000424224 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270207 SCV000424225 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000154089 SCV000555505 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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