ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.44T>A (p.Leu15His)

dbSNP: rs879254390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000238308 SCV002568022 uncertain significance Hypercholesterolemia, familial, 1 2022-08-28 reviewed by expert panel curation The NM_000527.5(LDLR):c.44T>A (p.Leu15His) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code PM2 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), so PM2 is met.
LDLR-LOVD, British Heart Foundation RCV000238308 SCV000294421 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only

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