ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.119C>T (p.Pro40Leu)

gnomAD frequency: 0.00001  dbSNP: rs766710327
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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 RCV001349525 SCV001543876 uncertain significance not provided 2020-10-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 28939980). This variant is present in population databases (rs766710327, ExAC 0.01%). This sequence change replaces proline with leucine at codon 40 of the THBD protein (p.Pro40Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine.
Fulgent Genetics, Fulgent Genetics RCV002486436 SCV002798300 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2022-01-18 criteria provided, single submitter clinical testing

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