ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11223934)_(11231218_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004581026 SCV005063570 likely pathogenic Familial hypercholesterolemia 2023-05-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. A similar copy number gain has been confirmed to occur in-tandem in at least one individual (PMID: 7989866). This increases the likelihood that that this copy number gain also occurs in tandem and disrupts protein function. Studies have shown that a similar copy number variant alters LDLR gene expression (PMID: 7989866). This variant is also known as FH Salerno. A similar copy number variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 7989866). This variant results in a copy number gain of the genomic region encompassing exon(s) 9-14 of the LDLR gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame.

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