ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.1913G>A (p.Arg638His)

gnomAD frequency: 0.00016  dbSNP: rs145269995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000850158 SCV000992346 uncertain significance Interstitial lung disease due to ABCA3 deficiency 2019-04-15 criteria provided, single submitter clinical testing This ABCA3 variant (rs145269995) has been identified in large population datasets and the minor allele frequency is neither low enough to consider the variant rare (<0.1%) nor high enough to consider it a population polymorphism (>1%) within the East Asian subpopulation (gnomAD: 38/19946 alleles; 0.19%, no homozygotes). ABCA3 c.1913G>A has not been reported in ClinVar to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and the arginine residue at this position is not evolutionarily conserved across the species assessed. This variant has been reported in the heterozygous state in a healthy adult, however, it has not been reported in affected individuals to our knowledge. The clinical significance of c.1913G>A is uncertain at this time.
Alder lab, University of Pittsburgh RCV002284207 SCV002573680 uncertain significance Interstitial lung disease 2 2022-08-01 criteria provided, single submitter research

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