ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) (rs146400809)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040137 SCV000855139 likely benign not specified 2018-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000040137 SCV000237080 likely benign not specified 2017-05-17 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.
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201394 SCV000240002 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing
Invitae RCV000229160 SCV000286579 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040137 SCV000063828 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro9577Leu va riant in TTN has been identified by our laboratory in 1 Caucasian child with con centric HCM. It has also been identified in 0.5% (4/680) of East Asian chromosom es and 0.1% (9/7916) of South Asian chromosomes by the Exome Aggregation Consort ium (ExAC, http://exac.broadinstitute.org; dbSNP rs146400809). Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, while the clinical significance of th e p.Pro9577Leu variant is uncertain, its frequency suggests that it is more like ly to be benign.

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