ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)

gnomAD frequency: 0.00003  dbSNP: rs202057289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415435 SCV000492812 likely pathogenic Prolactin-producing pituitary gland adenoma; High myopia 2015-08-05 criteria provided, single submitter clinical testing
Invitae RCV001861449 SCV002228845 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4585*) in the LRP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRP2 are known to be pathogenic (PMID: 17632512, 25682901). This variant is present in population databases (rs202057289, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with LRP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 374076). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002524667 SCV003595437 uncertain significance Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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