ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) (rs397518427)

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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 RCV001200892 SCV001371806 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2020-01-29 criteria provided, single submitter clinical testing This ABCA3 variant is absent from large population datasets and has not been reported in affected individuals in the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would probably be damaging, and the glycine residue at this position is evolutionarily conserved across most species assessed. Due to lack of functional data, we consider the clinical significance of c.2003G>A to be uncertain at this time.
Cole and Hamvas Lab, Washington University - St. Louis RCV000074417 SCV000106031 untested not provided no assertion provided not provided Converted during submission to not provided.

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