ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2547+9C>A

dbSNP: rs746674813
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106583 SCV002437435 likely benign Familial hypercholesterolemia 2024-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161580 SCV003858383 likely benign Cardiovascular phenotype 2023-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526185 SCV005040138 likely benign not specified 2024-03-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999656 SCV005625871 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing The LDLR c.2547+9C>A variant has not been reported in individuals with LDLR-related conditions in the published literature. The frequency of this variant in the general population, 0.000023 (3/129064 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect LDLR mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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