ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1359-3C>T

gnomAD frequency: 0.00006  dbSNP: rs775657243
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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 RCV000237778 SCV000295391 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Color Diagnostics, LLC DBA Color Health RCV001182460 SCV001347906 likely benign Familial hypercholesterolemia 2017-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001182460 SCV003302458 uncertain significance Familial hypercholesterolemia 2022-10-22 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the LDLR gene. It does not directly change the encoded amino acid sequence of the LDLR protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs775657243, gnomAD 0.01%). This variant has been observed in individuals with familial hypercholesterolemia (PMID: 19007590; Invitae). ClinVar contains an entry for this variant (Variation ID: 251810). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.

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