ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)

gnomAD frequency: 0.00010  dbSNP: rs372633280
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184102 SCV000236651 benign not specified 2014-06-19 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.
Eurofins Ntd Llc (ga) RCV000725473 SCV000337177 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing
Invitae RCV001078714 SCV000643272 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426891 SCV002728719 likely benign Cardiovascular phenotype 2021-03-25 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486743 SCV004239925 likely benign Cardiomyopathy 2023-03-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000184102 SCV001918483 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725473 SCV001927267 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000725473 SCV001957398 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725473 SCV001974011 likely benign not provided no assertion criteria provided clinical testing

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