ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup)

dbSNP: rs11466445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654792 SCV000776692 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-10-30 criteria provided, single submitter clinical testing This variant, c.67_78dup, results in the insertion of 4 amino acid(s) to the TGFBR1 protein (p.Ala23_Ala26dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TGFBR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 543893). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.
Fulgent Genetics, Fulgent Genetics RCV002485481 SCV002787764 uncertain significance Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 2021-11-22 criteria provided, single submitter clinical testing

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