ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) (rs771843862)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220157 SCV000272613 uncertain significance not specified 2015-07-23 criteria provided, single submitter clinical testing The p.Asp8316Asn variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 14/16510 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Com putational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to dete rmine pathogenicity. In summary, the clinical significance of the p.Asp8316Asn v ariant is uncertain.
GeneDx RCV000220157 SCV000718216 likely benign not specified 2017-04-11 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.

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