Submissions for variant NM_001089.3(ABCA3):c.393C>T (p.Ala131=)

gnomAD frequency: 0.00106  dbSNP: rs145383120

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000884614	SCV001028005	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Johns Hopkins Genomics, Johns Hopkins University	RCV001007615	SCV001167302	likely benign	Interstitial lung disease due to ABCA3 deficiency	2019-11-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001007615	SCV001280595	uncertain significance	Interstitial lung disease due to ABCA3 deficiency	2017-04-28	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000884614	SCV002563296	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ABCA3: BP4, BP7
Ambry Genetics	RCV002372509	SCV002624336	likely benign	Hereditary pulmonary alveolar proteinosis	2017-03-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.