ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5065C>T (p.Arg1689Cys)

gnomAD frequency: 0.00002  dbSNP: rs780820172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520805 SCV000619921 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing The R1689C variant in the APOB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1689C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on currently available evidence, we interpret R1689C as a variant of uncertain significance.
Invitae RCV001837947 SCV001208901 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023589 SCV003751069 uncertain significance Cardiovascular phenotype 2021-08-23 criteria provided, single submitter clinical testing The c.5065C>T (p.R1689C) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a C to T substitution at nucleotide position 5065, causing the arginine (R) at amino acid position 1689 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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