ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2340C>T (p.His780=) (rs45620539)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732940 SCV000860942 uncertain significance not provided 2018-05-05 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000758237 SCV000886875 uncertain significance Surfactant metabolism dysfunction, pulmonary, 3 2019-01-30 criteria provided, single submitter clinical testing This ABCA3 variant (rs45620539) 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 the African subpopulation (gnomAD: 115/24972 alleles; 0.46%, no homozygotes). This patient's ethnicity is not reported. A single submitter in ClinVar classifies this variant as uncertain clinical significance (Variation ID: 596957). This variant is reported to be present in one individual with neonatal respiratory distress syndrome (RDS) and absent in an individual without RDS. Bioinformatic analysis predicts that this synonymous variant would not affect normal exon 18 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.2340C>T is uncertain at this time.
Invitae RCV000732940 SCV001049690 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000758237 SCV001279822 likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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