ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11312-5194_11312-5162dup (rs397517815)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041053 SCV000064744 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing p.Thr5102_Glu5112dup in exon 45A of TTN: This variant is not expected to be clin ically significant because it has been identified in 0.6% (376/66452) European c hromosomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397517815) and in 1.1% (4/372) Caucasian control chromosomes tested by our laboratory (LMM unpublished data).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000041053 SCV000740483 likely benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786262 SCV000925013 uncertain significance not provided 2016-07-27 no assertion criteria provided provider interpretation p.Thr5102_Glu5112dup (T5102_E5112dup, c.15285_15317dup33:) in exon 46 of the TTN gene (NM_133379.3, alternate transcript). Seen in a patient in our center with LVNC and reduced systolic function. Given the location, lack of case data, and frequency in ExAC, we consider this variant a variant of uncertain significance, probably benign and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). The variant has not been reported in association with disease. Based on the genomic position (hg19 ) and https://cardiodb.org/titin/ it appears the variant is in the I-band distant from the A band. To date it appears that pathogenic variants in TTN are in the A band (or the I band near the A band). ExAC: 0.6% (376/66452) European chromosomes.

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