ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) (rs397517583)

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Total submissions: 9
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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 RCV000770026 SCV000901452 benign Cardiomyopathy 2017-10-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727270 SCV000707110 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347554 SCV000423199 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407706 SCV000423200 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303308 SCV000423201 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358217 SCV000423202 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406048 SCV000423203 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304633 SCV000423204 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040265 SCV000063956 uncertain significance not specified 2015-12-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Lys12787Asn v ariant in TTN has been reported by our laboratory in 2 individuals (1 HCM and 1 ARVC with reduced LV function). Both individuals carried a disease-causing varia nt in another gene and p.Lys12787Asn did not segregate with ARVC in an affected family member. It has been identified in 0.24% (40/16444) of South Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397517583). Computational prediction tools and conservation analysis su ggest that this variant may impact the protein, though this information is not p redictive enough to determine pathogenicity. In summary, while the clinical sign ificance of the p.Lys12787Asn variant is uncertain, its frequency suggests that it is more likely to be benign.

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