ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4451G>A (p.Arg1484Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alder lab, University of Pittsburgh RCV002284285 SCV002573687 uncertain significance Interstitial lung disease 2 2022-08-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003097665 SCV003502383 uncertain significance not provided 2022-06-22 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 1484 of the ABCA3 protein (p.Arg1484Gln). This variant is present in population databases (rs200173380, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ABCA3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004047573 SCV003539667 uncertain significance Hereditary pulmonary alveolar proteinosis 2022-03-11 criteria provided, single submitter clinical testing The c.4451G>A (p.R1484Q) alteration is located in exon 29 (coding exon 26) of the ABCA3 gene. This alteration results from a G to A substitution at nucleotide position 4451, causing the arginine (R) at amino acid position 1484 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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