ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)

gnomAD frequency: 0.00010  dbSNP: rs372521529
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723770 SCV000203656 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215889 SCV000271128 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu32724Leu in Exon 307 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 1/6616 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
Invitae RCV001086310 SCV000642580 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000723770 SCV000714670 likely benign not provided 2019-06-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170282 SCV001332846 likely benign Cardiomyopathy 2017-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408683 SCV002676804 likely benign Cardiovascular phenotype 2020-10-15 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.

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