ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.407T>G (p.Leu136Trp)

gnomAD frequency: 0.00001  dbSNP: rs550522588
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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 RCV002541650 SCV003518063 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 136 of the THBD protein (p.Leu136Trp). This variant is present in population databases (rs550522588, gnomAD 0.005%). This missense change has been observed in individual(s) with venous thromboembolism (PMID: 34970867). ClinVar contains an entry for this variant (Variation ID: 988879). 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 expected to disrupt THBD protein function with a positive predictive value of 80%. 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.
Birmingham Platelet Group; University of Birmingham RCV001270608 SCV001450907 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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