ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.447+8G>A

gnomAD frequency: 0.00054  dbSNP: rs376429116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001254625 SCV001430652 likely benign Interstitial lung disease due to ABCA3 deficiency 2020-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069350 SCV002433710 likely benign not provided 2024-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327607 SCV002638918 uncertain significance Hereditary pulmonary alveolar proteinosis 2014-08-05 criteria provided, single submitter clinical testing The c.447+8G>A intronic variant results from a G to A substitution 8 nucleotides after coding exon 3 in the ABCA3 gene. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.02% (3/12,980), having been observed in 0.07% (3/4388) of African American alleles and in none of 8592 European American alleles. This nucleotide position is not conserved on limited sequence alignment, and the A-allele is present in zebra finch. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003973166 SCV004794941 likely benign ABCA3-related disorder 2020-10-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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