ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14502A>G (p.Ala4834=)

gnomAD frequency: 0.00002  dbSNP: rs779926164
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558210 SCV000642697 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001548610 SCV001768551 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307539 SCV002600677 likely benign not specified 2022-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001548610 SCV004148142 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004537980 SCV004756368 likely benign TTN-related disorder 2023-12-27 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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