ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)

dbSNP: rs727504421
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000225734 SCV000250952 pathogenic not provided 2022-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17470566, 27879313, 30158670, 16928994)
Mendelics RCV000987137 SCV001136357 pathogenic Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995668 SCV001149965 pathogenic Loeys-Dietz syndrome 2 2019-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001042957 SCV001206666 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 524 of the TGFBR2 protein (p.Asp524Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of TGFBR2-related conditions (PMID: 16928994, 17470566, 30158670; internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 180541). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is expected to disrupt TGFBR2 function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000225734 SCV002544778 likely pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing TGFBR2: PM1, PM2, PM5, PP3, PP4, PS4:Supporting
Blueprint Genetics RCV000157520 SCV000207265 likely pathogenic Loeys-Dietz syndrome 2014-11-25 no assertion criteria provided clinical testing

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