ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)

gnomAD frequency: 0.00011  dbSNP: rs397517600
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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 RCV000040315 SCV000064006 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing The p.Glu14250Lys variant in TTN has been identified by our laboratory in 1 Ashk enazi Jewish individual with HCM. This variant has also been identified in 0.04% (28/66612) of European chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs397517600). Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Glu14250Lys variant is uncertain.
Eurofins Ntd Llc (ga) RCV000726235 SCV000701310 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618209 SCV000735483 likely benign Cardiovascular phenotype 2018-11-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086999 SCV000764547 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000726235 SCV000982651 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170833 SCV001333453 benign Cardiomyopathy 2018-05-02 criteria provided, single submitter clinical testing

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