ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13168G>C (p.Asp4390His)

dbSNP: rs771015234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002383984 SCV002689693 uncertain significance Cardiovascular phenotype 2020-06-16 criteria provided, single submitter clinical testing The p.D4390H variant (also known as c.13168G>C), located in coding exon 29 of the APOB gene, results from a G to C substitution at nucleotide position 13168. The aspartic acid at codon 4390 is replaced by histidine, an amino acid with similar properties. This amino acid position is 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508961 SCV000605942 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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