ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-139C>G

gnomAD frequency: 0.00002  dbSNP: rs879254371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237992 SCV000294387 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237992 SCV000599299 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Invitae RCV002518472 SCV003442707 uncertain significance Familial hypercholesterolemia 2021-10-05 criteria provided, single submitter clinical testing Studies have shown that this variant alters LDLR gene expression (PMID: 17625505). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 250951). This variant has been observed in individuals with clinical features of familial hypercholesterolemia (PMID: 17625505; Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant occurs in a non-coding region of the LDLR gene. It does not change the encoded amino acid sequence of the LDLR protein.

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