ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)

dbSNP: rs2146029786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808882 SCV002059101 pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2022-01-03 criteria provided, single submitter clinical testing The variant has been reported to be associated with LTBP4 related disorder (PMID:31273557). Stop-gained (nonsense): 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). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001808882 SCV004805404 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2024-03-25 criteria provided, single submitter research
GeneDx RCV004720944 SCV005328003 likely pathogenic not provided 2024-02-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed with a second truncating LTBP4 variant, phase (in cis or trans) unknown, in a patient with unspecified congenital anomalies in published literature (PMID: 31273557); Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.2230C>T (p.Arg744*); This variant is associated with the following publications: (PMID: 31273557)

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