ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.536_537del (p.Val179fs)

dbSNP: rs2135159627
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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 RCV001906000 SCV002153349 pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val179Glyfs*14) in the LTBP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LTBP3 are known to be pathogenic (PMID: 11790802, 19344874, 25669657).

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