ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His)

gnomAD frequency: 0.00001  dbSNP: rs557707047
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000850180 SCV000992376 uncertain significance Interstitial lung disease due to ABCA3 deficiency 2019-06-23 criteria provided, single submitter clinical testing This ABCA3 variant (rs557707047) is rare (<0.1%) in a large population dataset (gnomAD: 7/251094 total alleles; 0.003%; no homozygotes). ABCA3 c.4466G>A has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and the arginine residue at this position is poorly evolutionarily conserved across the species assessed. This variant is located within a well-established functional domain called the nucleotide-binding domain 2 (NBD2). The clinical significance of c.4466G>A is uncertain at this time.

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