ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4370G>A (p.Arg1457Gln)

gnomAD frequency: 0.00010  dbSNP: rs201226715
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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 RCV001120018 SCV001278480 uncertain significance Interstitial lung disease due to ABCA3 deficiency 2017-12-27 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. 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.
Invitae RCV001856574 SCV002305434 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1457 of the ABCA3 protein (p.Arg1457Gln). This variant is present in population databases (rs201226715, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with ABCA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 887345). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001856574 SCV002762268 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign in association with surfactant dysfunction to our knowledge; This variant is associated with the following publications: (PMID: 30129429, 23166334)

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