ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu)

gnomAD frequency: 0.00004  dbSNP: rs776119459
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002491496 SCV002777269 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491496 SCV004568968 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699517 SCV001925801 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699517 SCV001963131 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738179 SCV005352668 uncertain significance APOB-related disorder 2024-04-12 no assertion criteria provided clinical testing The APOB c.11503A>C variant is predicted to result in the amino acid substitution p.Ile3835Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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