Submissions for variant NM_001089.3(ABCA3):c.213C>T (p.Phe71=)

gnomAD frequency: 0.00088  dbSNP: rs117515055

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000856678	SCV000396160	likely benign	Interstitial lung disease due to ABCA3 deficiency	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	RCV000856678	SCV000999224	benign	Interstitial lung disease due to ABCA3 deficiency	2019-06-03	criteria provided, single submitter	clinical testing
Invitae	RCV000888546	SCV001032188	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000888546	SCV002575229	likely benign	not provided	2019-04-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002429270	SCV002731116	benign	Hereditary pulmonary alveolar proteinosis	2015-06-15	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.