ClinVar Miner

Submissions for variant NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) (rs10482721)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586534 SCV000884682 benign not provided 2017-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621813 SCV000738369 likely benign Cardiovascular phenotype 2017-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Clinical Genetics, Erasmus University Medical Center RCV000508622 SCV000328907 uncertain significance Hirschsprung disease 1 2016-11-18 no assertion criteria provided clinical testing
GeneDx RCV000196473 SCV000250833 benign not specified 2016-11-30 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.
Illumina Clinical Services Laboratory,Illumina RCV000268199 SCV000354237 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586534 SCV000698188 benign not provided 2017-07-14 criteria provided, single submitter clinical testing Variant summary: The TGFB2 c.272G>A (p.Arg91His) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict damaging outcome for this variant, however in silico predictions are not definitive. This variant was found in 519/98396 control chromosomes (4 homozygotes) from ExAC at a frequency of 0.0052746, which is approximately 422 times the estimated maximal expected allele frequency of a pathogenic TGFB2 variant (0.0000125), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories (via ClinVar) have classified this variant as benign/likely benign. To our knowledge, the variant of interest has not been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Invitae RCV000228070 SCV000287901 benign Holt-Oram syndrome 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000196473 SCV000309500 benign not specified criteria provided, single submitter clinical testing

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