ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) (rs148671332)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150114 SCV000196938 uncertain significance not specified 2016-06-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg709Trp var iant in ABCA3 has been reported in the heterozygous state in 1 child with neonat al respiratory distress (NRD)(Flamein 2012). This variant has also been identifi ed by our laboratory in 1 neonate with pulmonary hypertension, pulmonary valve d ysplasia, left aortic arch with aberrant right subclavian artery, cardiomyopathy (RV dilation, mild LVH), and hypotonia. It has been identified in 0.2% (24/1036 4) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs148671332). Computational prediction tools and cons ervation analysis suggest that this variant may not impact the protein, though t his information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Arg709Trp variant is uncertain, its fre quency suggests that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV001117778 SCV001275999 likely benign Surfactant metabolism dysfunction, pulmonary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Johns Hopkins Genomics, Johns Hopkins University RCV001117778 SCV001762350 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2021-06-04 criteria provided, single submitter clinical testing

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