ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)

gnomAD frequency: 0.00004  dbSNP: rs727504515
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155661 SCV000205370 uncertain significance not specified 2013-04-21 criteria provided, single submitter clinical testing The Val8039Met variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000724980 SCV000332884 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000724980 SCV000719826 likely benign not provided 2018-07-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724980 SCV003800414 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing The TTN c.27847G>A; p.Val9283Met variant [rs727504515; ClinVar Variation ID: 178889] is rare in the general population (<0.2% 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.Val9283Met variant cannot be determined with certainty. References: Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11). PMID: 26567375. Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28. PMID: 22335739.
Revvity Omics, Revvity RCV000724980 SCV003822939 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing

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