ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)

gnomAD frequency: 0.00115  dbSNP: rs56014374
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001580027 SCV000250872 likely benign not provided 2021-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25715477, 28655553, 34032567, 30809044)
Preventiongenetics, part of Exact Sciences RCV000200131 SCV000310512 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251582 SCV000319698 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina RCV000292925 SCV000475615 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349783 SCV000475616 likely benign Loeys-Dietz syndrome 1 2018-02-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000251582 SCV000475617 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000251582 SCV000559247 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000251582 SCV000782357 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000251582 SCV000902962 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Mendelics RCV000349783 SCV001137880 likely benign Loeys-Dietz syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000251582 SCV001333559 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001580027 SCV002564056 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing TGFBR1: BP4, BS1
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277548 SCV002566139 benign Ehlers-Danlos syndrome 2022-06-27 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227711 SCV003924164 likely benign Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 2021-03-30 criteria provided, single submitter clinical testing TGFBR1 NM_004612.3 exon 3 p.Val153Ile (c.457G>A): This variant has been reported in the literature in one individual with vascular anomalies (Mattassi 2018 PMID:28655553). However, this variant is present in 0.1% (129/64576) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-99132622-G-A?dataset=gnomad_r3) and is present in ClinVar, with several labs classifying this variant as benign or likely benign (Variation ID:213868). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580027 SCV001809423 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580027 SCV001965753 likely benign not provided no assertion criteria provided clinical testing

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