ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.447+11C>T

gnomAD frequency: 0.01978  dbSNP: rs117031141
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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, Mass General Brigham Personalized Medicine RCV000150115 SCV000196939 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 447+11C>T in intron 6 of ABCA3: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 2.4% (210/8594) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs117031141).
Illumina Laboratory Services, Illumina RCV000385528 SCV000396158 benign Interstitial lung disease due to ABCA3 deficiency 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV002055949 SCV002350569 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326861 SCV002636075 benign Hereditary pulmonary alveolar proteinosis 2018-08-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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