ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.3905G>A (p.Gly1302Glu)

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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 RCV001260995 SCV001438376 likely pathogenic Surfactant metabolism dysfunction, pulmonary, 3 2020-10-12 criteria provided, single submitter clinical testing This ABCA3 variant has been reported in a patient with chronic lung disease who also carries ABCA3 c.875A>T. This variant was also found to be in trans with ABCA3 c.875A>T in a member of this family. ABCA3 c.3905G>A is absent from a large population dataset and has not been reported in ClinVar to our knowledge. Two bioinformatics tools queried predict that this substitution would be probably damaging, and the glycine residue at this position is conserved across all species assessed. We consider this variant to be likely pathogenic.

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