ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys) (rs973835010)

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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 RCV001007596 SCV001167275 likely pathogenic Surfactant metabolism dysfunction, pulmonary, 3 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.

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