Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color | RCV000775559 | SCV000909923 | uncertain significance | Familial hypercholesterolemias | 2018-07-29 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance based on current evidence: This intronic variant is predicted to abolish the canonical splice donor site of intron 17 in the APOB gene. To our knowledge, functional assays have not been performed for this variant to confirm the predicted defect in splicing. This variant has not been reported in individuals affected with familial hypercholesterolemia in the literature. This variant is rare in the general population and has been identified in 5/246094 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively. |
| Illumina Clinical Services Laboratory, |
RCV000778590 | SCV000914896 | uncertain significance | APOB-Related Disorders | 2018-11-06 | criteria provided, single submitter | clinical testing | This variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease. |