ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)

gnomAD frequency: 0.00026  dbSNP: rs149910892
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441613 SCV000520776 benign not specified 2016-04-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087475 SCV000642922 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730352 SCV000858081 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000441613 SCV006068738 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BS1;BP1;BP6
PreventionGenetics, part of Exact Sciences RCV004532996 SCV004718992 likely benign TTN-related disorder 2019-03-12 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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