ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn)

gnomAD frequency: 0.00003  dbSNP: rs757793421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838174 SCV001411535 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001838174 SCV002782837 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166057 SCV003858235 uncertain significance Cardiovascular phenotype 2022-12-12 criteria provided, single submitter clinical testing The p.D1722N variant (also known as c.5164G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 5164. The aspartic acid at codon 1722 is replaced by asparagine, 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.

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