ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)

gnomAD frequency: 0.00005  dbSNP: rs375103237
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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 RCV000152429 SCV000201480 likely benign not specified 2014-02-07 criteria provided, single submitter clinical testing Glu3576Lys in exon 45B of TTN: This variant has been identified in 2/8176 Europe an American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS/; dbSNP rs375103237). This variant is not expected to have cli nical significance due to a lack of conservation across species, including mamma ls. Of note, more than 35 species have a lysine (Lys) at this position despite h igh nearby amino acid conservation. Glu3576Lys in exon 45B of TTN (rs375103237 ; allele frequency = 2/8600) **
GeneDx RCV000152429 SCV000238161 likely benign not specified 2017-04-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000618488 SCV000736179 likely benign Cardiovascular phenotype 2017-12-15 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.
Eurofins Ntd Llc (ga) RCV000734067 SCV000862178 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000734067 SCV001153111 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing TTN: BP1, BP4

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