ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.383del (p.Lys128fs) (rs79375991)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559144 SCV000658831 benign Thoracic aortic aneurysm and aortic dissection 2017-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617551 SCV000739846 benign Cardiovascular phenotype 2013-02-08 criteria provided, single submitter clinical testing
GeneID Lab - Advanced Molecular Diagnostics RCV000680445 SCV000807818 likely pathogenic Loeys-Dietz syndrome 2018-03-10 criteria provided, single submitter clinical testing This variant results in an amino acid alteration replacing a lysine (K) with a serine (S) at position 128 creating a premature stop signal in the new reading frame noted as p K128Sfs*35. The substitution is predicted to result in a non-functional TGFBR2 protein, either through protein truncation or nonsense-mediated mRNA decay. This mutation is considered a non-tolerated amino acid change based on in silico prediction algorithms (disease causing), and it has not been reported in the ClinVar Database (NCBI National Library of Medicine, NIH, Bethesda MD), but it has been described in 3478 alleles out of 85936, in the ExAC database, all of them belonging to heterozygous carries of Latino origin. Based on these findings and the limited literature regarding this substitution we consider it as a likely pathogenic variant.

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