ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)

gnomAD frequency: 0.00006  dbSNP: rs72629789
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725920 SCV000340513 uncertain significance not provided 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000725920 SCV000530553 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Invitae RCV001085722 SCV000642568 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798773 SCV002042336 likely benign Cardiomyopathy 2020-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725920 SCV002047790 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411159 SCV002674708 likely benign Cardiovascular phenotype 2020-03-18 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.
CeGaT Center for Human Genetics Tuebingen RCV000725920 SCV004183801 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003897624 SCV004717602 likely benign TTN-related condition 2021-12-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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