ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11583C>T (p.Thr3861=)

gnomAD frequency: 0.00032  dbSNP: rs11899887
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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 RCV000155000 SCV000204682 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Thr3623Thr in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (6/3152) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11899887). Thr3623Thr in ex on 45B of TTN (rs11899887; allele frequency = 0.2%, 6/3152) **
GeneDx RCV001719970 SCV000515090 likely benign not provided 2020-03-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000155000 SCV000855118 likely benign not specified 2017-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399547 SCV002709191 likely benign Cardiovascular phenotype 2019-05-24 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.
Invitae RCV002516116 SCV003285151 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-08 criteria provided, single submitter clinical testing

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