ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10848del (p.Gly3617fs) (rs982371659)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America 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.

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