ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10848del (p.Gly3617fs)

dbSNP: rs982371659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590309 SCV000696659 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing Variant summary: The APOB c.10848delT (p.Gly3617Alafs) variant results in a premature termination codon, predicted to cause a truncated or absent APOB protein due to nonsense mediated decay. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121178 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. However, there is no evidence regarding the impact of a dosage reduction in apo-B-100 (due to this frameshift) on the ability of LDL to bind its receptors. Taken together, this variant is classified as VUS until additional evidence becomes available.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV001814190 SCV002061665 pathogenic Familial hypobetalipoproteinemia 1 2021-10-26 criteria provided, single submitter clinical testing PVS1, PM2_Supporting, PS3_Moderate, PS4_Moderate
Genetic Services Laboratory,University of Chicago RCV000590309 SCV002067281 pathogenic not provided 2019-03-27 criteria provided, single submitter clinical testing DNA sequence analysis of the APOB gene demonstrated a single base pair deletion in exon 26, c.10848del. This pathogenic sequence change results in an amino acid frameshift and creates a premature stop codon 5 amino acids downstream of the mutation, p.Gly3617Alafs*6. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated APOB protein with potentially abnormal function. This pathogenic sequence change has not been previously been described in patients with APOB-related disorders, however, truncating sequence changes are reported and are mainly associated with autosomal recessive hypobetalipoproteinemia (PMID: 24288038).

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