ClinVar Miner

Submissions for variant NM_001098668.4(SFTPA2):c.676G>A (p.Glu226Lys)

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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 RCV002282785 SCV002570358 uncertain significance Interstitial lung disease 2 2022-08-10 criteria provided, single submitter clinical testing This SFTPA2 missense variant is absent from a large population dataset and has not been reported in ClinVar, nor the literature, to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be damaging, while the other predicts that it would be tolerated, and the glutamic acid residue at this position is evolutionarily conserved across all of the species assessed5. We consider the clinical significance of c.676G>A to be uncertain at this time.

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