ClinVar Miner

Submissions for variant NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)

dbSNP: rs398122883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000030733 SCV000266542 pathogenic Loeys-Dietz syndrome 4 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000030733 SCV000548097 uncertain significance Loeys-Dietz syndrome 4 2020-10-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with TGFB2-related conditions (PMID: 22772368, Invitae). ClinVar contains an entry for this variant (Variation ID: 37086). This variant is not present in population databases (ExAC no frequency). This variant, c.294_308del, results in the deletion of 5 amino acid(s) of the TGFB2 protein (p.Ala100_Tyr104del), but otherwise preserves the integrity of the reading frame.
OMIM RCV000030733 SCV000053394 pathogenic Loeys-Dietz syndrome 4 2012-07-08 no assertion criteria provided literature only

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