ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) (rs72646870)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714072 SCV000844739 uncertain significance not provided 2018-02-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000714072 SCV000855052 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000040508 SCV000237445 likely benign not specified 2018-01-09 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.
Invitae RCV000473534 SCV000542430 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040508 SCV000064199 likely benign not specified 2012-08-08 criteria provided, single submitter clinical testing The Asp19657Asn variant in TTN has been identified in 4/8288 European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs72646870). The variant amino acid (asparagi ne, Asn) is present in other mammalian species, strongly suggesting that this ch ange does not impact the protein. While a modifying role of this variant cannot be ruled out it is likely benign when present in isolation.

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