ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)

gnomAD frequency: 0.00080  dbSNP: rs150175668
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001116329 SCV001274391 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002069875 SCV002383538 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429764 SCV002730854 uncertain significance Hereditary pulmonary alveolar proteinosis 2022-10-23 criteria provided, single submitter clinical testing The p.G739A variant (also known as c.2216G>C), located in coding exon 14 of the ABCA3 gene, results from a G to C substitution at nucleotide position 2216. The glycine at codon 739 is replaced by alanine, an amino acid with similar properties. In a population-based cohort from Missouri, this variant was identified in two infants of European descent (Wambach JA et al. Pediatrics, 2012 Dec;130:e1575-82). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear.
GeneDx RCV002069875 SCV004170075 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as a pathogenic variant in association with ABCA3-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 23166334)

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