ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.1361T>C (p.Val454Ala)

gnomAD frequency: 0.00029  dbSNP: rs147377392
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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 RCV002187731 SCV002342396 likely benign not provided 2024-08-23 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224609 SCV003920560 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2022-06-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.09% (40/41426) (https://gnomad.broadinstitute.org/variant/20-23048144-A-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1553770). This variant amino acid Alanine (Ala) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003958533 SCV004773704 likely benign THBD-related disorder 2023-09-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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