ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1904G>A (p.Arg635Gln)

gnomAD frequency: 0.00001  dbSNP: rs202001155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876132 SCV002167541 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411696 SCV002718190 uncertain significance Cardiovascular phenotype 2022-07-26 criteria provided, single submitter clinical testing The p.R635Q variant (also known as c.1904G>A), located in coding exon 14 of the APOB gene, results from a G to A substitution at nucleotide position 1904. The arginine at codon 635 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a familial hypercholesterolemia (FH) cohort; however, clinical details were limited (Li JJ et al. Arterioscler Thromb Vasc Biol, 2017 Mar;37:570-579). 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 RCV001876132 SCV002775121 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-06 criteria provided, single submitter clinical testing

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