ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del)

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 RCV001926829 SCV002200305 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-14 criteria provided, single submitter clinical testing This variant, c.61_78del, results in the deletion of 6 amino acid(s) of the TGFBR1 protein (p.Ala21_Ala26del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TGFBR1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002484588 SCV002784599 uncertain significance Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 2021-10-07 criteria provided, single submitter clinical testing

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