ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.241G>A (p.Val81Ile)

dbSNP: rs772288987
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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 RCV001894156 SCV002127372 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 81 of the THBD protein (p.Val81Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with atypical hemolytic uremic syndrome (PMID: 19625716, 31118930). ClinVar contains an entry for this variant (Variation ID: 1358168). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002503399 SCV002779195 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2022-03-24 criteria provided, single submitter clinical testing

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