ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)

dbSNP: rs1826371375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867301 SCV002118394 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-25 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TGFBR1 protein function. This variant has not been reported in the literature in individuals with TGFBR1-related conditions. 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. This sequence change replaces leucine with proline at codon 14 of the TGFBR1 protein (p.Leu14Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276912 SCV002566138 uncertain significance Ehlers-Danlos syndrome 2022-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506892 SCV002816993 uncertain significance Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 2021-07-20 criteria provided, single submitter clinical testing

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