ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8198T>C (p.Val2733Ala)

gnomAD frequency: 0.00006  dbSNP: rs771792572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773430 SCV001993417 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001876068 SCV002114136 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-10-18 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290619 SCV002580914 uncertain significance Hypercholesterolemia, autosomal dominant, type B 2022-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429817 SCV002681199 uncertain significance Cardiovascular phenotype 2022-01-10 criteria provided, single submitter clinical testing The c.8198T>C (p.V2733A) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a T to C substitution at nucleotide position 8198, causing the valine (V) at amino acid position 2733 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001876068 SCV002790491 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-28 criteria provided, single submitter clinical testing

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