ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001115431 SCV001273408 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 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 RCV001317105 SCV001507752 uncertain significance not provided 2020-07-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1205 of the ABCA3 protein (p.Gly1205Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs549977217, ExAC 0.7%). This variant has been observed in individual(s) with idiopathic pulmonary fibrosis (PMID: 28642621). ClinVar contains an entry for this variant (Variation ID: 884386). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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