ClinVar Miner

Submissions for variant NC_000019.10:g.11089452G>A

dbSNP: rs944580031
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000495878 SCV002817121 uncertain significance Hypercholesterolemia, familial, 1 2022-08-29 reviewed by expert panel curation The NM_000527.4(LDLR):c.-97G>A is a LDLR-AS1 Non Coding Transcript Variant and is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence codes PM2 and 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 follow: PM2_Met : absent from controls in GnomAD (gnomAD v2.1.1). PP4_Met : 1 index case with Dutch lipid clinic network >=6 PS4_supporting: variant met PM2 and was found in 1 index case with Dutch lipid clinic network >=6 (sequenced by progenica) from M.Arca Lab and 1 patient from Lille University & CHRU Lille (ClinVar entry) with Dutch Lipid Clinic Scoring of Probable FH
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000495878 SCV000583620 likely pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing ACMG Guidelines: Likely Pathogenic (ii)
Color Diagnostics, LLC DBA Color Health RCV000776578 SCV000912191 likely benign Familial hypercholesterolemia 2019-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000776578 SCV003451328 uncertain significance Familial hypercholesterolemia 2024-12-12 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the LDLR gene. It does not change the encoded amino acid sequence of the LDLR protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 28965616). ClinVar contains an entry for this variant (Variation ID: 430743). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
All of Us Research Program, National Institutes of Health RCV000495878 SCV004829717 likely benign Hypercholesterolemia, familial, 1 2024-02-22 criteria provided, single submitter clinical testing

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