ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) (rs145373396)

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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 RCV000040678 SCV000064369 uncertain significance not specified 2012-07-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp24800Gly var iant in TTN has been identified in 1.5% (2/132) of Mexican American chromosomes from a broad population by the 1000 Genomes project (dbSNP rs145373396). This fr equency raises the possibility that the variant may be benign but is insufficien t to rule out a role in disease. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is neede d to fully assess its clinical significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040678 SCV000228556 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000040678 SCV000237624 likely benign not specified 2017-04-07 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 RCV000456789 SCV000555423 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619273 SCV000736789 likely benign Cardiovascular phenotype 2018-09-06 criteria provided, single submitter clinical testing Other strong data supporting benign classification
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285205 SCV001471603 uncertain significance none provided 2019-08-14 criteria provided, single submitter clinical testing The TTN c.82103A>G; p.Asp27368Gly variant (rs145373396) 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. Asp27368Gly variant cannot be determined with certainty.

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