ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5580G>T (p.Gln1860His)

gnomAD frequency: 0.00002  dbSNP: rs199585500
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002348618 SCV002651339 uncertain significance Cardiovascular phenotype 2020-12-23 criteria provided, single submitter clinical testing The p.Q1860H variant (also known as c.5580G>T), located in coding exon 26 of the APOB gene, results from a G to T substitution at nucleotide position 5580. The glutamine at codon 1860 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002484000 SCV002789465 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002484000 SCV004578695 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-09-29 criteria provided, single submitter clinical testing

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