ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)

dbSNP: rs879254444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000237930 SCV002817137 uncertain significance Hypercholesterolemia, familial, 1 2022-08-29 reviewed by expert panel curation The NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code PM2, BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1) BP4 - REVEL = 0.389. It is below 0.50. splicing evaluation required. Functional data not available A) not on limits B) does not create AG or GT Variant is not predicted to alter splicing
LDLR-LOVD, British Heart Foundation RCV000237930 SCV000294545 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237930 SCV000607433 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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