ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)

gnomAD frequency: 0.00014  dbSNP: rs72648235
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724710 SCV000228666 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000219348 SCV000237704 uncertain significance not specified 2016-10-07 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM,DCM-CRDM panel(s).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219348 SCV000272790 uncertain significance not specified 2015-04-03 criteria provided, single submitter clinical testing The p.Gly26994Asp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 8/11566 Latino chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7 2648235). Computational prediction tools and conservation analysis do not provid e strong support for or against an impact to the protein. In summary, the clinic al significance of the p.Gly26994Asp variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000542576 SCV000643847 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000724710 SCV001146524 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293052 SCV001434032 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research
Ambry Genetics RCV002354453 SCV002654462 likely benign Cardiovascular phenotype 2020-09-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000724710 SCV003820286 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing

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