ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.667A>C (p.Met223Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003985054 SCV004801334 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly criteria provided, single submitter clinical testing The missense c.667A>C(p.Met223Leu) variant in THBD gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Met223Leu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Met at position 223 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Uncertain significance (VUS).

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