ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20355G>A (p.Ser6785=)

gnomAD frequency: 0.00006  dbSNP: rs549470227
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193553 SCV000249238 uncertain significance not specified 2015-03-13 criteria provided, single submitter clinical testing
Invitae RCV001087750 SCV000764646 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000839157 SCV000981040 likely benign not provided 2018-05-09 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.
PreventionGenetics, part of Exact Sciences RCV003947617 SCV004764652 likely benign TTN-related condition 2022-04-26 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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