ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2539A>G (p.Met847Val)

gnomAD frequency: 0.00007  dbSNP: rs369759665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001116109 SCV001274144 uncertain significance Interstitial lung disease due to ABCA3 deficiency 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV001815023 SCV002062044 uncertain significance Abnormal pulmonary interstitial morphology criteria provided, single submitter clinical testing
Ambry Genetics RCV002429763 SCV002742444 uncertain significance Hereditary pulmonary alveolar proteinosis 2018-06-13 criteria provided, single submitter clinical testing The p.M847N variant (also known as c.2539A>G), located in coding exon 17 of the ABCA3 gene, results from an A to G substitution at nucleotide position 2539. The methionine at codon 847 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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