ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)

gnomAD frequency: 0.00011  dbSNP: rs201380749
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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, Mass General Brigham Personalized Medicine RCV000217711 SCV000271074 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Tyr22022Tyr in Exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/6636 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
GeneDx RCV001697289 SCV000718023 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
Invitae RCV000643854 SCV000765541 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327085 SCV002634285 likely benign Cardiovascular phenotype 2019-08-22 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.
Fulgent Genetics, Fulgent Genetics RCV002503846 SCV002805131 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697289 SCV004150288 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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