ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1186+10G>C

gnomAD frequency: 0.00001  dbSNP: rs781336025
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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 RCV000238281 SCV000295267 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001485066 SCV001689491 likely benign Familial hypercholesterolemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV002225534 SCV002504160 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114409 SCV003800801 likely benign not specified 2025-01-08 criteria provided, single submitter clinical testing Variant summary: LDLR c.1186+10G>C alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.6e-05 in 1605314 control chromosomes. c.1186+10G>C has been reported in the literature in individuals affected with Familial Hypercholesterolemia (Damgaard_2005), however no supportive evidence for causality was provided. These report(s) do not provide unequivocal conclusions about association of the variant with Familial Hypercholesterolemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 15823288). ClinVar contains an entry for this variant (Variation ID: 251707). Based on the evidence outlined above, the variant was classified as likely benign.
Ambry Genetics RCV005348084 SCV006019611 likely benign Cardiovascular phenotype 2025-03-06 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.

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