ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5188A>C (p.Lys1730Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468503 SCV002764445 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-17 criteria provided, single submitter clinical testing The heterozygous c.5188A>C (p.Lys1730Gln) missense variant identified in the APOB gene has not been reported in affected individuals in the literature. The variant has 0.00001314 allele frequency in the gnomAD(v3) database (2 out of 152176 heterozygous alleles, no homozygotes) suggesting it is not a common benign variant in the populations represented in that database. Another missense variant affecting the same codon (p.Lys1730) but resulting in a different amino acid change (p.Lys1730Thr) has been reported in the ClinVar database as a Variant of Uncertain Significance (Variation ID: 918761). The c.5188A>C(p.Lys1730Gln) variant affects a weakly conserved residue (Lys1730) located in the β1 domain of APOB protein (PMID: 11518754). In silico tools provide conflicting predictions about potential pathogenicity of this variant (CADD score = 25.3, REVEL score = 0.143). Due to the lack of compelling evidence for its pathogenicity, the heterozygous c.5188A>C (p.Lys1730Gln) missense variant identified in the APOB gene is reported as a Variant of Uncertain Significance.

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