ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1845+11C>G

dbSNP: rs370245937
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211610 SCV000295702 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211610 SCV000599396 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284642 SCV001470532 likely pathogenic not provided 2020-08-12 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. The gain of a new splice site is predicted. Low nucleotide conservation. Statistically enriched in uncharacterized patients vs. unmatched population data. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Invitae RCV001853403 SCV002116503 pathogenic Familial hypercholesterolemia 2021-05-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with activation of a cryptic splice site in intron 12, which introduces a premature termination codon (PMID: 16159606). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 16159606). ClinVar contains an entry for this variant (Variation ID: 226375). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 12 of the LDLR gene. It does not directly change the encoded amino acid sequence of the LDLR protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211610 SCV000268642 pathogenic Hypercholesterolemia, familial, 1 2014-04-04 no assertion criteria provided clinical testing

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