ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys)

gnomAD frequency: 0.00005  dbSNP: rs758067709
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261202 SCV002541790 uncertain significance not provided 2021-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360888 SCV002662117 uncertain significance Cardiovascular phenotype 2021-09-21 criteria provided, single submitter clinical testing The p.Q2353K variant (also known as c.7057C>A), located in coding exon 26 of the APOB gene, results from a C to A substitution at nucleotide position 7057. The glutamine at codon 2353 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV002487590 SCV002793262 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002487590 SCV003198111 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-07-31 criteria provided, single submitter clinical testing
GeneDx RCV002261202 SCV003853133 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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