ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1731G>A (p.Trp577Ter) (rs875989928)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211585 SCV000295621 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211585 SCV000599387 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Invitae RCV000211585 SCV000832503 pathogenic Familial hypercholesterolemia 1 2018-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp577*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with familial hypercholesterolemia (FH) (PMID: 1301956). This variant is also known as Stop 556 in the literature. ClinVar contains an entry for this variant (Variation ID: 226370). A different variant (c.1730G>A) giving rise to the same protein effect observed here (p.Trp577*) has been reported in individuals with FH (PMID: 23680767, 26802169), indicating that the absent or disrupted residues may be critical for protein function. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211585 SCV000268633 pathogenic Familial hypercholesterolemia 1 2016-03-17 no assertion criteria provided clinical testing

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