ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)

dbSNP: rs879254482
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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 RCV000237774 SCV000294642 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237774 SCV000607450 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001804973 SCV000816330 pathogenic Familial hypercholesterolemia 2021-08-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV001804973 SCV002052110 likely pathogenic Familial hypercholesterolemia 2021-06-23 criteria provided, single submitter clinical testing This missense variant (also known as p.Cys95Arg in the mature protein) replaces cysteine with arginine at codon 116 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). Functional studies have shown that this variant disrupts LDL binding and uptake (PMID: 25545329). This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 10206683, 10634824, 11668640, 15241806, 19446849, 23375686, 32044282). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

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