ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) (rs572435149)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654818 SCV000776718 likely benign not provided 2018-08-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781902 SCV000920294 benign not specified 2017-09-26 criteria provided, single submitter clinical testing Variant summary: The TGFBR2 c.75A>G (p.Pro25Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was found in the control population dataset of gnomAD in 7/247672 control chromosomes at a frequency of 0.0000283, which is approximately 9 times the estimated maximal expected allele frequency of a pathogenic TGFBR2 variant (0.0000031), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000654818 SCV001153820 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Color RCV001185034 SCV001351164 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-21 criteria provided, single submitter clinical testing

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