ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3069G>T (p.Gln1023His)

gnomAD frequency: 0.00001  dbSNP: rs1364541592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262156 SCV001439926 uncertain significance Hypercholesterolemia, autosomal dominant, type B 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258964 SCV003977024 uncertain significance Inborn genetic diseases 2023-05-25 criteria provided, single submitter clinical testing The c.3069G>T (p.Q1023H) alteration is located in exon 20 (coding exon 20) of the APOB gene. This alteration results from a G to T substitution at nucleotide position 3069, causing the glutamine (Q) at amino acid position 1023 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003768384 SCV004575753 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-15 criteria provided, single submitter clinical testing

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