ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter)

gnomAD frequency: 0.00001  dbSNP: rs121909181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003555974 SCV004296355 pathogenic not provided 2023-03-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 8011). This premature translational stop signal has been observed in individual(s) with autosomal recessive clinical surfactant deficiency (PMID: 15044640). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1142*) in the ABCA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA3 are known to be pathogenic (PMID: 27516224).
OMIM RCV000008475 SCV000028683 pathogenic Interstitial lung disease due to ABCA3 deficiency 2004-03-25 no assertion criteria provided literature only

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