ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys)

gnomAD frequency: 0.00001  dbSNP: rs973835010
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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 RCV001007596 SCV001167275 likely pathogenic Interstitial lung disease due to ABCA3 deficiency 2019-09-05 criteria provided, single submitter clinical testing This ABCA3 variant (rs973835010) is absent from large population datasets. ABCA3 c.3973G>A has not been reported in ClinVar, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the glutamic acid residue at this position is highly evolutionarily conserved across all species assessed except lamprey. This variant has been previously reported in two siblings who presented with a disorder of surfactant metabolism. This variant is considered likely pathogenic.
Ambry Genetics RCV002354918 SCV002623089 uncertain significance Hereditary pulmonary alveolar proteinosis 2017-07-03 criteria provided, single submitter clinical testing The p.E1325K variant (also known as c.3973G>A), located in coding exon 23 of the ABCA3 gene, results from a G to A substitution at nucleotide position 3973. This variant was identified in two infant with respiratory distress syndrome who died; a second ABCA3 alteration was not detected (Agrawal A et al. Pediatr. Res., 2012 Jun;71:633-7). The glutamic acid at codon 1325 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear.

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