ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)

dbSNP: rs121908661
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781193 SCV002017183 pathogenic not provided 2019-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496285 SCV002781293 pathogenic Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2022-03-10 criteria provided, single submitter clinical testing
GeneDx RCV001781193 SCV003924865 pathogenic not provided 2022-11-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35383688, 11719191, 33707600, 16390319, 16252235)
OMIM RCV000006647 SCV000026830 pathogenic Osteoporosis with pseudoglioma 2001-11-16 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003904811 SCV004727538 pathogenic LRP5-related disorder 2023-12-05 no assertion criteria provided clinical testing The LRP5 c.1282C>T variant is predicted to result in premature protein termination (p.Arg428*). This variant was reported in a homozygous individual presenting with Osteoporosis-pseudoglioma syndrome (Figure 2A, Gong et al 2001. PubMed ID: 11719191). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in LRP5 are expected to be pathogenic. This variant is interpreted as pathogenic.

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