ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.170A>C (p.Asp57Ala)

dbSNP: rs1555802310
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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 RCV000627176 SCV002817136 uncertain significance Hypercholesterolemia, familial, 1 2022-08-29 reviewed by expert panel curation The NM_000527.5(LDLR):c.170A>C (p.Asp57Ala) variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes PM2 and PP3 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. PP3: REVEL= 0.959. It is above 0.75, so PP3 is met.
Iberoamerican FH Network RCV000627176 SCV000748080 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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