ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73995G>A (p.Thr24665=)

gnomAD frequency: 0.00002  dbSNP: rs369122344
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170333 SCV001332904 likely benign Cardiomyopathy 2018-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001593306 SCV001824088 likely benign not provided 2019-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067839 SCV002415794 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339422 SCV002638178 likely benign Cardiovascular phenotype 2022-04-11 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.
PreventionGenetics, part of Exact Sciences RCV004545099 SCV004792007 likely benign TTN-related disorder 2022-09-19 no assertion criteria provided 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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