ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) (rs137853960)

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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 RCV000238452 SCV000294486 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455469 SCV000539517 uncertain significance not specified 2016-08-12 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in probands, but no segregation data; ClinVar: 1 LB, 1 VUS
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985762 SCV001134252 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing
Color Health, Inc RCV001191123 SCV001358822 uncertain significance Familial hypercholesterolemia 2021-01-12 criteria provided, single submitter clinical testing This missense variant (also known as p.Ala29Thr in the mature protein) replaces alanine with threonine at codon 50 of the LDLR protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been performed for this variant. This variant has been reported in an individual affected with familial hypercholesterolemia (PMID: 10422804). This variant has been identified in 21/282594 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001191123 SCV001456137 uncertain significance Familial hypercholesterolemia 2020-09-16 no assertion criteria provided clinical testing

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