ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)

gnomAD frequency: 0.00066  dbSNP: rs4252315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000867812 SCV000533452 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000867812 SCV001009076 likely benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399823 SCV002710737 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-19 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.
Fulgent Genetics, Fulgent Genetics RCV002500779 SCV002802143 likely benign Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome 2021-07-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937899 SCV004765034 likely benign TGFB3-related disorder 2022-11-07 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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