ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) (rs188878341)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154986 SCV000204668 uncertain significance not specified 2014-07-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp5111Tyr vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.2% (9/3802) of African American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs18887 8341). Computational prediction tools and conservation analysis do not provide s trong support for or against an impact to the protein. In summary, while the cli nical significance of the Asp5111Tyr variant is uncertain, its frequency suggest s that it is more likely to be benign.
Invitae RCV001087945 SCV000555135 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726949 SCV000704398 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000154986 SCV000728942 likely benign not specified 2018-03-01 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.
Athena Diagnostics Inc RCV000726949 SCV001146332 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285161 SCV001471553 uncertain significance none provided 2019-08-02 criteria provided, single submitter clinical testing The TTN c.19063G>T, p.(Asp6355Tyr) variant (rs188878341; ClinVar Variation ID: 178247) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.(Asp6355Tyr) variant cannot be determined with certainty.

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