ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) (rs115324990)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038236 SCV000061904 benign not specified 2012-06-22 criteria provided, single submitter clinical testing Leu384Leu in Exon 07 of TGFBR1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.9% (32/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs115324990).
GeneDx RCV000038236 SCV000250856 benign not specified 2014-10-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000617111 SCV000319250 benign Cardiovascular phenotype 2015-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000590186 SCV000559251 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590186 SCV000698476 benign not provided 2016-08-22 criteria provided, single submitter clinical testing Variant summary: The TGFBR1 c.1152C>T (p.Leu384Leu) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing or ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 109/121370 (1/1113), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic TGFBR1 variant of 1/769230, suggesting this variant is likely a benign polymorphism. In addition, multiple reputable clinical laboratories cite the variant as "benign." Therefore, the variant of interest has been classified as Benign.
Color RCV000245235 SCV000903641 benign Thoracic aortic aneurysm and aortic dissection 2018-03-08 criteria provided, single submitter clinical testing

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