ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) (rs145251229)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000856676 SCV000999222 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2019-05-20 criteria provided, single submitter clinical testing This previously reported ABCA3 variant (rs145251229) has been identified in large population datasets and the minor allele frequency is neither low enough to consider the variant rare (<0.1%) nor high enough to consider it a population polymorphism (>1%) within a subpopulation (gnomAD total: 72/282632 alleles; 0.02547%, no homozygotes). Two bioinformatic tools queried predict that this substitution would be tolerated, and the alanine residue at this position is not evolutionarily conserved across species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 27 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence that this variant is deleterious, the clinical significance of c.4085C>T is uncertain at this time.
Invitae RCV000902436 SCV001046858 likely benign not provided 2018-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000856676 SCV001278810 benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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