ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)

gnomAD frequency: 0.00001  dbSNP: rs727504528
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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 RCV000155678 SCV000205388 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing p.Glu28756Glu in exon 288 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/66732 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
Ambry Genetics RCV000249570 SCV000320479 likely benign Cardiovascular phenotype 2015-11-19 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.
Eurofins Ntd Llc (ga) RCV000725871 SCV000340122 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
Invitae RCV001081058 SCV000765499 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725871 SCV001371168 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: BP4, BP7

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