ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68225-1G>C

dbSNP: rs1575854773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000853456 SCV000996367 uncertain significance Primary dilated cardiomyopathy 2017-11-20 criteria provided, single submitter research The TTN c.63302-1G>C variant has not been reported previously and is absent from the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), as well as the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a proband with dilated cardiomyopathy and a family history of disease however, segregation was not possible. In silico tools SpliceSiteFinder-like, MaxEntScan, NNSPLICE, and Human Splicing Finder all predict that this variant will cause aberrant splicing. In summary, the variant is rare in the general population and multiple In silico tools predict that it will result in abnormal splicing, therefore we classify TTN c.63302-1G>C as a variant of 'uncertain significance'.

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