ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)

gnomAD frequency: 0.00015  dbSNP: rs190037522
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117549 SCV000151767 uncertain significance not provided 2014-02-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373717 SCV000419089 uncertain significance Donnai-Barrow syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV000373717 SCV000896847 uncertain significance Donnai-Barrow syndrome 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000373717 SCV001523255 uncertain significance Donnai-Barrow syndrome 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000117549 SCV001562417 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000373717 SCV002054333 uncertain significance Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
New York Genome Center RCV000373717 SCV002548596 uncertain significance Donnai-Barrow syndrome 2021-06-11 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252314 SCV001428066 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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