Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853310 | SCV000996156 | likely pathogenic | Hypobetalipoproteinemia | 2018-06-10 | criteria provided, single submitter | clinical testing | This frameshifting variant in exon 19 of 29 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously detected in a patient with possible hypobetalipoproteinemia (PMID: 27959697) and reported by a clinical lab as pathogenic (ClinVar: SCV000328706). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.2988_2994delCGGGGAC (p.Gly997ProfsTer3) variant is classified as likely pathogenic. |
Baylor Genetics | RCV000415324 | SCV000328706 | pathogenic | Familial hypobetalipoproteinemia 1 | 2014-12-17 | no assertion criteria provided | clinical testing | Our laboratory reported dual molecular diagnoses in ADAR (NM_001111.1, c.3019G>A) and APOB (NM_000384.2, c.2988_2994del) in a single individual with reported features of delayed speech, truncal hypotonia, stiffness and spasticity of lower extremities, possible abetalipoproteinemia, and recurrent dermatitis. Most cases of familial hypobetalipoproteinemia (FHBL1) result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844). |