ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.166T>C (p.Tyr56His)

gnomAD frequency: 0.00004  dbSNP: rs150496608
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180279 SCV001345162 uncertain significance Familial hypercholesterolemia 2018-12-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Tyr29His in the mature protein) is located in the beta alpha 1 domain of the APOB protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 2/277218 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Ambry Genetics RCV002393403 SCV002703070 uncertain significance Cardiovascular phenotype 2023-05-27 criteria provided, single submitter clinical testing The p.Y56H variant (also known as c.166T>C), located in coding exon 3 of the APOB gene, results from a T to C substitution at nucleotide position 166. The tyrosine at codon 56 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002505765 SCV002814386 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-11 criteria provided, single submitter clinical testing
Invitae RCV002505765 SCV004577982 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-28 criteria provided, single submitter clinical testing

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