ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)

gnomAD frequency: 0.00003  dbSNP: rs541040798
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088556 SCV000764740 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727707 SCV000855055 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195179 SCV001365474 benign not specified 2019-12-23 criteria provided, single submitter clinical testing The p.Arg28882Cys variant in TTN is classified as benign because it has been identified in 0.3% (82/30602) of South Asian chromosomes and 3 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
PreventionGenetics, part of Exact Sciences RCV004544861 SCV004756992 likely benign TTN-related disorder 2022-03-02 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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