ClinVar Miner

Submissions for variant NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)

gnomAD frequency: 0.00001  dbSNP: rs371035540
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265772 SCV001443941 uncertain significance Inborn genetic diseases 2017-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001732099 SCV001982439 likely pathogenic not provided 2021-09-20 criteria provided, single submitter clinical testing Published functional studies demonstrate V178M results in impaired SFTPA2 secretion (Tsui et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26568241, 31796085, 25553246, 30854216, 32855221)
Alder lab, University of Pittsburgh RCV001780219 SCV002573690 pathogenic Interstitial lung disease 2 2022-02-01 criteria provided, single submitter research
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001780219 SCV005417867 likely pathogenic Interstitial lung disease 2 criteria provided, single submitter clinical testing PM2_Supporting+PS3_Supporting+PS4_Moderate+PP1+PP4
OMIM RCV001780219 SCV002016364 pathogenic Interstitial lung disease 2 2021-11-18 no assertion criteria provided literature only

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