ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.3205C>T (p.Arg1069Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005171927 SCV005803910 pathogenic not provided 2024-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1099*) in the LTBP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LTBP4 are known to be pathogenic (PMID: 19836010, 22829427). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LTBP4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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