ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) (rs192001910)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619030 SCV000737132 uncertain significance Cardiovascular phenotype 2018-01-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000040927 SCV000615965 uncertain significance not specified 2017-01-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725429 SCV000336875 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000040927 SCV000237910 likely benign not specified 2017-11-24 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 RCV000461113 SCV000555575 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040927 SCV000064618 uncertain significance not specified 2015-08-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr31863Met v ariant in TTN has been identified in 0.1% (70/66688) of European chromosomes and 0.1% (11/11554) of Latino chromosomes by the Exome Aggregation Consortium (ExAC ,; dbSNP rs192001910). Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, while the clinical significance of the p.Thr31 863Met variant is uncertain, its frequency suggests that it is more likely to be benign.

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