ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.132del (p.Pro45fs)

dbSNP: rs1286042594
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269742 SCV001449973 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing
3billion RCV000627066 SCV002058747 pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported to be associated with LTBP3 related disorder (ClinVar ID: VCV000523637, PMID:29625025). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000047, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000627066 SCV000747835 pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2018-05-11 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291427 SCV001479929 confers sensitivity Heritable Thoracic Aortic Disease no assertion criteria provided research
Institute of Human Genetics, University of Ulm RCV000627066 SCV004171027 pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2020-11-17 no assertion criteria provided research

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