ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)

gnomAD frequency: 0.00001  dbSNP: rs760578075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774269 SCV002002082 uncertain significance not provided 2020-06-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001825027 SCV002075222 not provided Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-01-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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