ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) (rs121909185)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602710 SCV000731996 uncertain significance not specified 2017-10-10 criteria provided, single submitter clinical testing The p.Leu326Pro variant in ABCA3 has not been previously reported in individuals with pulmonary fibrosis or in large population studies. Another variant, p.Leu3 26Arg, involving the same codon has been reported in the homozygous state in a m ale infant who died from persistent pulmonary hypertension. Electron microscopy of a lung specimen from this individual revealed absence of lamellar bodies (Kun ig 2007). Computational prediction tools and conservation analysis suggest that the p.Leu326Pro variant may impact the protein, though this information is not p redictive enough to determine pathogenicity. In summary, the clinical significan ce of the p.Leu326Pro variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PM5_Support (Richards 2015).
OMIM RCV000008481 SCV000028689 pathogenic Surfactant metabolism dysfunction, pulmonary, 3 2007-09-01 no assertion criteria provided literature only

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