ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)

gnomAD frequency: 0.00031  dbSNP: rs141817409
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088474 SCV000554984 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594898 SCV000704571 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000594898 SCV001146536 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000594898 SCV001751809 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000594898 SCV002048545 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing The TTN c.93215G>A; p.Arg31072His variant (rs141817409; ClinVar Variation ID: 413039) 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.Arg31072His variant cannot be determined with certainty.
Ambry Genetics RCV002365681 SCV002663434 likely benign Cardiovascular phenotype 2020-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000594898 SCV003826722 uncertain significance not provided 2023-01-23 criteria provided, single submitter clinical testing

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