ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.839G>A (p.Arg280His) (rs143008553)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219325 SCV000271479 uncertain significance not specified 2015-12-09 criteria provided, single submitter clinical testing The p.Arg280His variant in ABCA3 has been reported in 1 individual with adult id iopathic interstitial pneumonia (Van Moorsel, 2010). It has been identified in 0 .15% (100/66624) of European chromosomes by the Exome Aggregation Consortium (Ex AC, http://exac.broadinstitute.org; dbSNP rs143008553). Computational prediction tools and conservation analysis suggest that this variant may impact the protei n, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg280His variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000308878 SCV000396148 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Johns Hopkins Genomics, Johns Hopkins University RCV000308878 SCV001431524 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2020-08-27 criteria provided, single submitter clinical testing
Invitae RCV001477709 SCV001681956 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing

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